Journal of Genetic Counseling

, Volume 26, Issue 3, pp 387–434 | Cite as

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

  • Sarah Scollon
  • Amanda Knoth Anglin
  • Martha Thomas
  • Joyce T. Turner
  • Kami Wolfe Schneider
Review Paper


An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer referral presents to the genetics clinic.


Pediatric cancer predisposition Genetics Genetic testing Tumors Cancer 


Conflicts of Interest

Ms. Knoth is a salaried employee of Myriad Genetic Laboratories, Inc. and holds MYGN stock. There are no additional conflicts of interest.


All co-authors have been listed in alphabetical order.


  1. (NCCN) N.C.C.N (2017). NCCN Clinical Practice Guidelines. Genetic/Familial High Risk Assessment: Breast and Ovarian. Version 2.2017.Google Scholar
  2. Aavikko, M., Li, S. P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G., Poyhonen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J., & Vahteristo, P. (2012). Loss of SUFU function in familial multiple meningioma. American Journal of Human Genetics, 91, 520–526.PubMedPubMedCentralCrossRefGoogle Scholar
  3. Abraham, S. C., Montgomery, E. A., Giardiello, F. M., & Wu, T. T. (2001). Frequent beta-catenin mutations in juvenile nasopharyngeal angiofibromas. The American Journal of Pathology, 158, 1073–1078.PubMedPubMedCentralCrossRefGoogle Scholar
  4. Abramson, D. H., & Schefler, A. C. (2004). Update on retinoblastoma. Retina, 24, 828–848.PubMedCrossRefGoogle Scholar
  5. Abuzahra, F., Parren, L. J. M. T., & Frank, J. (2012). Multiple familial and pigmented basal cell carcinomas in early childhood – Bazex–Dupré–Christol syndrome. Journal of the European Academy of Dermatology and Venereology, 26, 117–121.PubMedCrossRefGoogle Scholar
  6. Alexander, G. A., & Henschke, U. K. (1981). Advanced skin cancer in Tanzanian albinos: preliminary observations. Journal of the National Medical Association, 73, 1047–1054.PubMedPubMedCentralGoogle Scholar
  7. Alsanea, O., & Clark, O. H. (2001). Familial thyroid cancer. Current Opinion in Oncology, 13, 44–51.PubMedCrossRefGoogle Scholar
  8. Alter, B.P. (2007). Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology Education Program, 2007, 29–39.Google Scholar
  9. Alter, B. P. (2014). Fanconi anemia and the development of leukemia. Best Practice & Research. Clinical Haematology, 27, 214–221.CrossRefGoogle Scholar
  10. Alter, B. P., Giri, N., Savage, S. A., Peters, J. A., Loud, J. T., Leathwood, L., Carr, A. G., Greene, M. H., & Rosenberg, P. S. (2010). Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. British Journal of Haematology, 150, 179–188.PubMedPubMedCentralGoogle Scholar
  11. Alter, B. P., Giri, N., Savage, S. A., Quint, W. G., de Koning, M. N., & Schiffman, M. (2013). Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus. International Journal of Cancer, 133, 1513–1515.PubMedPubMedCentralCrossRefGoogle Scholar
  12. Alter, B. P., Rosenberg, P. S., & Brody, L. C. (2007). Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics, 44, 1–9.PubMedCrossRefGoogle Scholar
  13. American Thyroid Association Guidelines Task Force, Kloos, R. T., Eng, C., Evans, D. B., Francis, G. L., Gagel, R. F., Gharib, H., Moley, J. F., Pacini, F., Ringel, M. D., Schlumberger, M., & Wells Jr., S. A. (2009). Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid, 19, 565–612.CrossRefGoogle Scholar
  14. Ammoun, S., Provenzano, L., Zhou, L., Barczyk, M., Evans, K., Hilton, D. A., Hafizi, S., & Hanemann, C. O. (2014). Axl/Gas6/NFkappaB signalling in schwannoma pathological proliferation, adhesion and survival. Oncogene, 33, 336–346.PubMedCrossRefGoogle Scholar
  15. Anderson, C. E., Punnett, H. H., Huff, V., & de Chadarevian, J. P. (2003). Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18. American Journal of Medical Genetics. Part A, 121A, 52–55.PubMedCrossRefGoogle Scholar
  16. Anil, S., Beena, V. T., Raji, M. A., Remani, P., Ankathil, R., & Vijayakumar, T. (1994). Oral squamous cell carcinoma in a case of dyskeratosis congenita. Annals of Dentistry, 53, 15–18.PubMedGoogle Scholar
  17. Arcangeli, F., & Calista, D. (2006). Congenital myofibromatosis in two siblings. European Journal of Dermatology: EJD, 16, 181–183.PubMedGoogle Scholar
  18. Aretz, S., Koch, A., Uhlhaas, S., Friedl, W., Propping, P., von Schweinitz, D., & Pietsch, T. (2006). Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatric Blood & Cancer, 47, 811–818.CrossRefGoogle Scholar
  19. Aretz, S., Stienen, D., Friedrichs, N., Stemmler, S., Uhlhaas, S., Rahner, N., Propping, P., & Friedl, W. (2007). Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Human Mutation, 28, 985–992.PubMedCrossRefGoogle Scholar
  20. Arndt, C. A., & Crist, W. M. (1999). Common musculoskeletal tumors of childhood and adolescence. The New England Journal of Medicine, 341, 342–352.PubMedCrossRefGoogle Scholar
  21. Arva, N. C., Pappas, J. G., Bhatla, T., Raetz, E. A., Macari, M., Ginsburg, H. B., & Hajdu, C. H. (2012). Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature. The American Journal of Surgical Pathology, 36, 149–153.PubMedCrossRefGoogle Scholar
  22. Astuti, D., Morris, M. R., Cooper, W. N., Staals, R. H. J., Wake, N. C., Fews, G. A., Gill, H., Gentle, D., Shuib, S., Ricketts, C. J., Cole, T., van Essen, A. J., van Lingen, R. A., Neri, G., Opitz, J. M., Rump, P., Stolte-Dijkstra, I., Muller, F., Pruijn, G. J. M., Latif, F., & Maher, E. R. (2012). Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nature Genetics, 44, 277–284.PubMedCrossRefGoogle Scholar
  23. Atalay, S., Aypar, E., Ucar, T., Altug, N., Deda, G., Teber, S., & Tutar, E. (2010). Fetal and neonatal cardiac rhabdomyomas: clinical presentation, outcome and association with tuberous sclerosis complex. The Turkish Journal of Pediatrics, 52, 481–487.PubMedGoogle Scholar
  24. Attard, T. M., Giglio, P., Koppula, S., Snyder, C., & Lynch, H. T. (2007). Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Cancer, 109, 761–766.PubMedCrossRefGoogle Scholar
  25. Auer, F., Ruschendorf, F., Gombert, M., Husemann, P., Ginzel, S., Izraeli, S., Harit, M., Weintraub, M., Weinstein, O. Y., Lerer, I., Stepensky, P., Borkhardt, A., & Hauer, J. (2014). Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G > A. Leukemia, 28, 1136–1138.PubMedCrossRefGoogle Scholar
  26. Bacci, C., Sestini, R., Provenzano, A., Paganini, I., Mancini, I., Porfirio, B., Vivarelli, R., Genuardi, M., & Papi, L. (2010). Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics, 11, 73–80.PubMedCrossRefGoogle Scholar
  27. Bader, R. S., Chitayat, D., Kelly, E., Ryan, G., Smallhorn, J. F., Toi, A., & Hornberger, L. K. (2003). Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. The Journal of Pediatrics, 143, 620–624.PubMedCrossRefGoogle Scholar
  28. Bahuau, M., Vidaud, D., Jenkins, R. B., Bieche, I., Kimmel, D. W., Assouline, B., Smith, J. S., Alderete, B., Cayuela, J. M., Harpey, J. P., Caille, B., & Vidaud, M. (1998). Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Research, 58, 2298–2303.PubMedGoogle Scholar
  29. Bahuau, M., Vidaud, D., Kujas, M., Palangie, A., Assouline, B., Chaignaud-Lebreton, M., Prieur, M., Vidaud, M., Harpey, J. P., Lafourcade, J., & Caille, B. (1997). Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness. Annales de Génétique, 40, 78–91.PubMedGoogle Scholar
  30. Bahubeshi, A., Bal, N., Rio Frio, T., Hamel, N., Pouchet, C., Yilmaz, A., Bouron-Dal Soglio, D., Williams, G. M., Tischkowitz, M., Priest, J. R., & Foulkes, W. D. (2010). Germline DICER1 mutations and familial cystic nephroma. Journal of Medical Genetics, 47, 863–866.PubMedCrossRefGoogle Scholar
  31. Bainbridge, M. N., Armstrong, G. N., Gramatges, M. M., Bertuch, A. A., Jhangiani, S. N., Doddapaneni, H., Lewis, L., Tombrello, J., Tsavachidis, S., Liu, Y., Jalali, A., Plon, S. E., Lau, C. C., Parsons, D. W., Claus, E. B., Barnholtz-Sloan, J., Il'yasova, D., Schildkraut, J., Ali-Osman, F., Sadetzki, S., Johansen, C., Houlston, R. S., Jenkins, R. B., Lachance, D., Olson, S. H., Bernstein, J. L., Merrell, R. T., Wrensch, M. R., Walsh, K. M., Davis, F. G., Lai, R., Shete, S., Aldape, K., Amos, C. I., Thompson, P. A., Muzny, D. M., Gibbs, R. A., Melin, B. S., Bondy, M. L., & Gliogene, C. (2015). Germline mutations in shelterin complex genes are associated with familial glioma. Journal of the National Cancer Institute, 107, 384.PubMedCrossRefGoogle Scholar
  32. Ball, S. (2011). Diamond Blackfan anemia. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, 2011, 487–491.Google Scholar
  33. Ballmaier, M., & Germeshausen, M. (2011). Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Seminars in Thrombosis and Hemostasis, 37, 673–681.PubMedCrossRefGoogle Scholar
  34. Barbaux, S., Niaudet, P., Gubler, M. C., Grunfeld, J. P., Jaubert, F., Kuttenn, F., Fekete, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., & McElreavey, K. (1997). Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nature Genetics, 17, 467–470.PubMedCrossRefGoogle Scholar
  35. Barontini, M., Levin, G., & Sanso, G. (2006). Characteristics of pheochromocytoma in a 4- to 20-year-old population. Annals of the New York Academy of Sciences, 1073, 30–37.PubMedCrossRefGoogle Scholar
  36. Bausch, B., Borozdin, W., Mautner, V. F., Hoffmann, M. M., Boehm, D., Robledo, M., Cascon, A., Harenberg, T., Schiavi, F., Pawlu, C., Peczkowska, M., Letizia, C., Calvieri, S., Arnaldi, G., Klingenberg-Noftz, R. D., Reisch, N., Fassina, A., Brunaud, L., Walter, M. A., Mannelli, M., MacGregor, G., Palazzo, F. F., Barontini, M., Walz, M. K., Kremens, B., Brabant, G., Pfaffle, R., Koschker, A. C., Lohoefner, F., Mohaupt, M., Gimm, O., Jarzab, B., McWhinney, S. R., Opocher, G., Januszewicz, A., Kohlhase, J., Eng, C., Neumann, H. P., & European-American Phaeochromocytoma Registry Study, G. (2007). Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. The Journal of Clinical Endocrinology and Metabolism, 92, 2784–2792.PubMedCrossRefGoogle Scholar
  37. Beard, C. M., Sheps, S. G., Kurland, L. T., Carney, J. A., & Lie, J. T. (1983). Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979. Mayo Clinic Proceedings, 58, 802–804.PubMedGoogle Scholar
  38. Beggs, A. D., Latchford, A. R., Vasen, H. F., Moslein, G., Alonso, A., Aretz, S., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Friedl, W., Moller, P., Hes, F. J., Jarvinen, H., Mecklin, J. P., Nagengast, F. M., Parc, Y., Phillips, R. K., Hyer, W., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J. R., Stormorken, A., Tejpar, S., Thomas, H. J., Wijnen, J. T., Clark, S. K., & Hodgson, S. V. (2010). Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut, 59, 975–986.PubMedCrossRefGoogle Scholar
  39. Beghetti, M., Gow, R. M., Haney, I., Mawson, J., Williams, W. G., & Freedom, R. M. (1997). Pediatric primary benign cardiac tumors: a 15-year review. American Heart Journal, 134, 1107–1114.PubMedCrossRefGoogle Scholar
  40. Benn, D. E., Gimenez-Roqueplo, A. P., Reilly, J. R., Bertherat, J., Burgess, J., Byth, K., Croxson, M., Dahia, P. L., Elston, M., Gimm, O., Henley, D., Herman, P., Murday, V., Niccoli-Sire, P., Pasieka, J. L., Rohmer, V., Tucker, K., Jeunemaitre, X., Marsh, D. J., Plouin, P. F., & Robinson, B. G. (2006). Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. The Journal of Clinical Endocrinology and Metabolism, 91, 827–836.PubMedCrossRefGoogle Scholar
  41. Bergholm, U., Adami, H. O., Telenius-Berg, M., Johansson, H., & Wilander, E. (1990). Incidence of sporadic and familial medullary thyroid carcinoma in Sweden 1959 through 1981. A nationwide study in 126 patients. Swedish MCT Study Group. Acta Oncologica, 29, 9–15.PubMedCrossRefGoogle Scholar
  42. Bien, E., Stachowicz-Stencel, T., Sierota, D., Polczynska, K., Szolkiewicz, A., Stefanowicz, J., Adamkiewicz-Drozynska, E., Czauderna, P., Kosiak, W., Dubaniewicz-Wybieralska, M., Izycka-Swieszewska, E., & Balcerska, A. (2007). Sarcomas in children with neurofibromatosis type 1-poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution. Child's nervous system: ChNS: official journal of the International Society for Pediatric Neurosurgery, 23, 1147–1153.CrossRefGoogle Scholar
  43. Bigley, V., Haniffa, M., Doulatov, S., Wang, X. N., Dickinson, R., McGovern, N., Jardine, L., Pagan, S., Dimmick, I., Chua, I., Wallis, J., Lordan, J., Morgan, C., Kumararatne, D. S., Doffinger, R., van der Burg, M., van Dongen, J., Cant, A., Dick, J. E., Hambleton, S., & Collin, M. (2011). The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. The Journal of Experimental Medicine, 208, 227–234.PubMedPubMedCentralCrossRefGoogle Scholar
  44. Birch, J. M., Alston, R. D., McNally, R. J., Evans, D. G., Kelsey, A. M., Harris, M., Eden, O. B., & Varley, J. M. (2001). Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene, 20, 4621–4628.PubMedCrossRefGoogle Scholar
  45. Boikos, S. A., Pappo, A. S., Killian, J. K., LaQuaglia, M. P., Weldon, C. B., George, S., Trent, J. C., von Mehren, M., Wright, J. A., Schiffman, J. D., Raygada, M., Pacak, K., Meltzer, P. S., Miettinen, M. M., Stratakis, C., Janeway, K. A., & Helman, L. J. (2016). Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncology, 2, 922–928.PubMedCrossRefGoogle Scholar
  46. Boman, F., Hill, D. A., Williams, G. M., Chauvenet, A., Fournet, J. C., Soglio, D. B., Messinger, Y., & Priest, J. R. (2006). Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry. The Journal of Pediatrics, 149, 850–854.PubMedCrossRefGoogle Scholar
  47. Bosi, G., Lintermans, J. P., Pellegrino, P. A., Svaluto-Moreolo, G., & Vliers, A. (1996). The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. Acta Paediatrica, 85, 928–931.PubMedCrossRefGoogle Scholar
  48. Bourdeaut, F., Ferrand, S., Brugieres, L., Hilbert, M., Ribeiro, A., Lacroix, L., Benard, J., Combaret, V., Michon, J., Valteau-Couanet, D., Isidor, B., Rialland, X., Poiree, M., Defachelles, A. S., Peuchmaur, M., Schleiermacher, G., Pierron, G., Gauthier-Villars, M., Janoueix-Lerosey, I., & Delattre, O. (2012). ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. European journal of human genetics: EJHG, 20, 291–297.PubMedCrossRefGoogle Scholar
  49. Bourdeaut, F., Freneaux, P., Thuille, B., Lellouch-Tubiana, A., Nicolas, A., Couturier, J., Pierron, G., Sainte-Rose, C., Bergeron, C., Bouvier, R., Rialland, X., Laurence, V., Michon, J., Sastre-Garau, X., & Delattre, O. (2007). hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. The Journal of Pathology, 211, 323–330.PubMedCrossRefGoogle Scholar
  50. Boyd, M. C., & Steinbok, P. (1987). Choroid plexus tumors: problems in diagnosis and management. Journal of Neurosurgery, 66, 800–805.PubMedCrossRefGoogle Scholar
  51. Brandi, M. L., Gagel, R. F., Angeli, A., Bilezikian, J. P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R. G., Libroia, A., Lips, C. J., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B. A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R. V., Thompson, N. W., Tomassetti, P., Tonelli, F., Wells Jr., S. A., & Marx, S. J. (2001). Guidelines for diagnosis and therapy of MEN type 1 and type 2. The Journal of Clinical Endocrinology and Metabolism, 86, 5658–5671.PubMedCrossRefGoogle Scholar
  52. Brant, W. O., Rajimwale, A., Lovell, M. A., Travers, S. H., Furness 3rd, P. D., Sorensen, M., Oottamasathien, S., & Koyle, M. A. (2006). Gonadoblastoma and Turner syndrome. The Journal of Urology, 175, 1858–1860.PubMedCrossRefGoogle Scholar
  53. Brauckhoff, M., Gimm, O., Hinze, R., Ukkat, J., Brauckhoff, K., & Dralle, H. (2002). Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation. Thyroid, 12, 557–561.PubMedCrossRefGoogle Scholar
  54. Brems, H., Beert, E., de Ravel, T., & Legius, E. (2009). Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. The Lancet. Oncology, 10, 508–515.PubMedCrossRefGoogle Scholar
  55. Brooks, J. S. J., Freeman, M., & Enterline, H. T. (1985). Malignant “Triton” tumors. Natural history and immunohistochemistry of nine new cases with literature review. Cancer, 55, 2543–2549.PubMedCrossRefGoogle Scholar
  56. Brosens, L. A., Langeveld, D., van Hattem, W. A., Giardiello, F. M., & Offerhaus, G. J. (2011). Juvenile polyposis syndrome. World journal of gastroenterology: WJG, 17, 4839–4844.PubMedPubMedCentralCrossRefGoogle Scholar
  57. Brugieres, L., Pierron, G., Chompret, A., Paillerets, B. B., Di Rocco, F., Varlet, P., Pierre-Kahn, A., Caron, O., Grill, J., & Delattre, O. (2010). Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. Journal of Medical Genetics, 47, 142–144.PubMedCrossRefGoogle Scholar
  58. Brugieres, L., Remenieras, A., Pierron, G., Varlet, P., Forget, S., Byrde, V., Bombled, J., Puget, S., Caron, O., Dufour, C., Delattre, O., Bressac-de Paillerets, B., & Grill, J. (2012). High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 30, 2087–2093.CrossRefGoogle Scholar
  59. Bruwer, Z., Algar, U., Vorster, A., Fieggen, K., Davidson, A., Goldberg, P., Wainwright, H., & Ramesar, R. (2014). Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome. Journal of Genetic Counseling, 23, 147–155.PubMedCrossRefGoogle Scholar
  60. Bubien, V., Bonnet, F., Brouste, V., Hoppe, S., Barouk-Simonet, E., David, A., Edery, P., Bottani, A., Layet, V., Caron, O., Gilbert-Dussardier, B., Delnatte, C., Dugast, C., Fricker, J. P., Bonneau, D., Sevenet, N., Longy, M., & Caux, F. (2013). High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Journal of Medical Genetics, 50, 255–263.PubMedCrossRefGoogle Scholar
  61. Buckner, J. C., Brown, P. D., O'Neill, B. P., Meyer, F. B., Wetmore, C. J., & Uhm, J. H. (2007). Central nervous system tumors. Mayo Clinic Proceedings, 82, 1271–1286.PubMedCrossRefGoogle Scholar
  62. Burger, B., Cattani, N., Trueb, S., de Lorenzo, R., Albertini, M., Bontognali, E., Itin, C., Schaub, N., Itin, P. H., & Heinimann, K. (2011). Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? The Oncologist, 16, 1698–1705.PubMedPubMedCentralCrossRefGoogle Scholar
  63. Burgoyne, A. M., Somaiah, N., & Sicklick, J. K. (2014). Gastrointestinal stromal tumors in the setting of multiple tumor syndromes. Current Opinion in Oncology, 26, 408–414.PubMedCrossRefGoogle Scholar
  64. Burke, J. F., Chen, H., & Gosain, A. (2014). Parathyroid conditions in childhood. Seminars in Pediatric Surgery, 23, 66–70.PubMedPubMedCentralCrossRefGoogle Scholar
  65. Burnichon, N., Cascon, A., Schiavi, F., Morales, N. P., Comino-Mendez, I., Abermil, N., Inglada-Perez, L., de Cubas, A. A., Amar, L., Barontini, M., de Quiros, S. B., Bertherat, J., Bignon, Y. J., Blok, M. J., Bobisse, S., Borrego, S., Castellano, M., Chanson, P., Chiara, M. D., Corssmit, E. P., Giacche, M., de Krijger, R. R., Ercolino, T., Girerd, X., Gomez-Garcia, E. B., Gomez-Grana, A., Guilhem, I., Hes, F. J., Honrado, E., Korpershoek, E., Lenders, J. W., Leton, R., Mensenkamp, A. R., Merlo, A., Mori, L., Murat, A., Pierre, P., Plouin, P. F., Prodanov, T., Quesada-Charneco, M., Qin, N., Rapizzi, E., Raymond, V., Reisch, N., Roncador, G., Ruiz-Ferrer, M., Schillo, F., Stegmann, A. P., Suarez, C., Taschin, E., Timmers, H. J., Tops, C. M., Urioste, M., Beuschlein, F., Pacak, K., Mannelli, M., Dahia, P. L., Opocher, G., Eisenhofer, G., Gimenez-Roqueplo, A. P., & Robledo, M. (2012). MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research, 18, 2828–2837.CrossRefGoogle Scholar
  66. Bydon, M., Mathios, D., Aguayo-Alvarez, J. J., Ho, C., Gokaslan, Z. L., & Bydon, A. (2013). Multiple primary intramedullary ependymomas: a case report and review of the literature. The spine journal: official journal of the North American Spine Society, 13, 1379–1386.CrossRefGoogle Scholar
  67. Calvert, G. T., Randall, R. L., Jones, K. B., Cannon-Albright, L., Lessnick, S., & Schiffman, J. D. (2012). At-risk populations for osteosarcoma: the syndromes and beyond. Sarcoma, 2012, 152382.PubMedPubMedCentralGoogle Scholar
  68. Cansu, A., Ahmetoglu, A., Kul, S., Uzman, D., & Ersoz, S. (2014). Nonfunctional islet cell tumor of the pancreas in a patient with tuberous sclerosis: a case report with literature review. Journal of clinical imaging science, 4, 3.PubMedPubMedCentralCrossRefGoogle Scholar
  69. Carney, J. A. (1999). Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clinic Proceedings, 74, 543–552.PubMedCrossRefGoogle Scholar
  70. Carney, J. A. (2013). Carney triad. Frontiers of Hormone Research, 41, 92–110.PubMedGoogle Scholar
  71. Carney, J. A., & Stratakis, C. A. (2002). Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. American Journal of Medical Genetics, 108, 132–139.PubMedCrossRefGoogle Scholar
  72. Carroll, W. L., Morgan, R., & Glader, B. E. (1985). Childhood bone marrow monosomy 7 syndrome: a familial disorder? The Journal of Pediatrics, 107, 578–580.PubMedCrossRefGoogle Scholar
  73. Cecen, E., Ince, D., Uysal, K. M., Ozer, E., Cetingoz, R., Ozguven, A. A., Cakmakci, H., Sarialioglu, F., & Olgun, N. (2011). Soft tissue sarcomas and central nervous system tumors in children with neurofibromatosis type 1. Child's nervous system: ChNS: official journal of the International Society for Pediatric Neurosurgery, 27, 1885–1893.CrossRefGoogle Scholar
  74. Chan, O. T., & Haghighi, P. (2006). Hamartomatous polyps of the colon: ganglioneuromatous, stromal, and lipomatous. Archives of Pathology & Laboratory Medicine, 130, 1561–1566.Google Scholar
  75. Chateil, J. F., Soussotte, C., Pedespan, J. M., Brun, M., Le Manh, C., & Diard, F. (2001). MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis. The British Journal of Radiology, 74, 24–31.PubMedCrossRefGoogle Scholar
  76. Chauveinc, L., Mosseri, V., Quintana, E., Desjardins, L., Schlienger, P., Doz, F., & Dutrillaux, B. (2001). Osteosarcoma following retinoblastoma: age at onset and latency period. Ophthalmic Genetics, 22, 77–88.PubMedCrossRefGoogle Scholar
  77. Chen, H., Sippel, R. S., O'Dorisio, M. S., Vinik, A. I., Lloyd, R. V., Pacak, K., & North American Neuroendocrine Tumor, S. (2010). The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas, 39, 775–783.PubMedPubMedCentralCrossRefGoogle Scholar
  78. Cheng, Y., Wang, H., Wang, H., Chen, Z., & Jin, J. (2009). Trisomy 21 in patients with acute leukemia. American Journal of Hematology, 84, 193–194.PubMedCrossRefGoogle Scholar
  79. Chirnomas, S. D., & Kupfer, G. M. (2013). The inherited bone marrow failure syndromes. Pediatric Clinics of North America, 60, 1291–1310.PubMedCrossRefGoogle Scholar
  80. Chitambar, C. R., Robinson, W. A., & Glode, L. M. (1983). Familial leukemia and aplastic anemia associated with monosomy 7. The American Journal of Medicine, 75, 756–762.PubMedCrossRefGoogle Scholar
  81. Choo, D., Shotland, L., Mastroianni, M., Glenn, G., van Waes, C., Linehan, W. M., & Oldfield, E. H. (2004). Endolymphatic sac tumors in von Hippel-Lindau disease. Journal of Neurosurgery, 100, 480–487.PubMedCrossRefGoogle Scholar
  82. Choong, K., Freedman, M. H., Chitayat, D., Kelly, E. N., Taylor, G., & Zipursky, A. (1999). Juvenile myelomonocytic leukemia and Noonan syndrome. Journal of Pediatric Hematology/Oncology, 21, 523–527.PubMedCrossRefGoogle Scholar
  83. Chrzanowska, K. H., Piekutowska-Abramczuk, D., Popowska, E., Gladkowska-Dura, M., Maldyk, J., Syczewska, M., Krajewska-Walasek, M., Goryluk-Kozakiewicz, B., Bubala, H., Gadomski, A., Gaworczyk, A., Kazanowska, B., Koltan, A., Kuzmicz, M., Luszawska-Kutrzeba, T., Maciejka-Kapuscinska, L., Stolarska, M., Stefanska, K., Sznurkowska, K., Wakulinska, A., Wieczorek, M., Szczepanski, T., & Kowalczyk, J. (2006). Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. International journal of cancer. Journal international du cancer, 118, 1269–1274.PubMedCrossRefGoogle Scholar
  84. Ciara, E., Piekutowska-Abramczuk, D., Popowska, E., Grajkowska, W., Barszcz, S., Perek, D., Dembowska-Baginska, B., Perek-Polnik, M., Kowalewska, E., Czajnska, A., Syczewska, M., Czornak, K., Krajewska-Walasek, M., Roszkowski, M., & Chrzanowska, K. H. (2010). Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients. Acta Neuropathologica, 119, 325–334.PubMedCrossRefGoogle Scholar
  85. Ciftci, A. O., Tanyel, F. C., Senocak, M. E., & Buyukpamukcu, N. (2001). Pheochromocytoma in children. Journal of Pediatric Surgery, 36, 447–452.PubMedCrossRefGoogle Scholar
  86. Committe on Bioethics, C.o.G., American College of Medical Genetics and Genomics. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics, 131, 620–622.CrossRefGoogle Scholar
  87. Courcoutsakis, N. A., Tatsi, C., Patronas, N. J., Lee, C. C., Prassopoulos, P. K., & Stratakis, C. A. (2013). The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. Insights Imaging, 4, 119–133.PubMedPubMedCentralCrossRefGoogle Scholar
  88. Coutinho-Camillo, C. M., Brentani, M. M., & Nagai, M. A. (2008). Genetic alterations in juvenile nasopharyngeal angiofibromas. Head & Neck, 30, 390–400.CrossRefGoogle Scholar
  89. Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006). The tuberous sclerosis complex. The New England Journal of Medicine, 355, 1345–1356.PubMedCrossRefGoogle Scholar
  90. Curia, M. C., Zuckermann, M., De Lellis, L., Catalano, T., Lattanzio, R., Aceto, G., Veschi, S., Cama, A., Otte, J. B., Piantelli, M., Mariani-Costantini, R., Cetta, F., & Battista, P. (2008). Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations. Modern pathology: an official journal of the United States and Canadian Academy of Pathology, Inc, 21, 7–14.CrossRefGoogle Scholar
  91. Czyzyk, E., Jozwiak, S., Roszkowski, M., & Schwartz, R. A. (2003). Optic pathway gliomas in children with and without neurofibromatosis 1. Journal of Child Neurology, 18, 471–478.PubMedCrossRefGoogle Scholar
  92. de Jong, M. C., Kors, W. A., de Graaf, P., Castelijns, J. A., Moll, A. C., & Kivela, T. (2015). The Incidence of Trilateral Retinoblastoma: A Systematic Review and Meta-Analysis. American Journal of Ophthalmology, 160, 1116–1126.e5.Google Scholar
  93. de Kock, L., Sabbaghian, N., Plourde, F., Srivastava, A., Weber, E., Bouron-Dal Soglio, D., Hamel, N., Choi, J. H., Park, S. H., Deal, C. L., Kelsey, M. M., Dishop, M. K., Esbenshade, A., Kuttesch, J. F., Jacques, T. S., Perry, A., Leichter, H., Maeder, P., Brundler, M. A., Warner, J., Neal, J., Zacharin, M., Korbonits, M., Cole, T., Traunecker, H., McLean, T. W., Rotondo, F., Lepage, P., Albrecht, S., Horvath, E., Kovacs, K., Priest, J. R., & Foulkes, W. D. (2014a). Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathologica, 128, 111–122.PubMedPubMedCentralCrossRefGoogle Scholar
  94. de Kock, L., Sabbaghian, N., Soglio, D. B., Guillerman, R. P., Park, B. K., Chami, R., Deal, C. L., Priest, J. R., & Foulkes, W. D. (2014b). Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma. The Journal of Clinical Endocrinology and Metabolism, 99, E1072–E1077.PubMedCrossRefGoogle Scholar
  95. deCou, J. M., Rao, B. N., Parham, D. M., Lobe, T. E., Bowman, L., Pappo, A. S., & Fontanesi, J. (1995). Malignant peripheral nerve sheath tumors: the St. Jude Children's Research Hospital experience. Annals of surgical oncology, 2, 524–529.PubMedCrossRefGoogle Scholar
  96. di Masi, A., & Antoccia, A. (2008). NBS1 Heterozygosity and Cancer Risk. Current Genomics, 9, 275–281.PubMedPubMedCentralCrossRefGoogle Scholar
  97. Dabora, S. L., Jozwiak, S., Franz, D. N., Roberts, P. S., Nieto, A., Chung, J., Choy, Y. S., Reeve, M. P., Thiele, E., Egelhoff, J. C., Kasprzyk-Obara, J., Domanska-Pakiela, D., & Kwiatkowski, D. J. (2001). Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American Journal of Human Genetics, 68, 64–80.PubMedCrossRefGoogle Scholar
  98. Darling, T. N., Skarulis, M. C., Steinberg, S. M., Marx, S. J., Spiegel, A. M., & Turner, M. (1997). Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Archives of Dermatology, 133, 853–857.PubMedCrossRefGoogle Scholar
  99. Das, U., Appaji, L., Kumari, B. S., Sirsath, N. T., Padma, M., Kavitha, S., Avinash, T., & Lakshmaiah, K. C. (2014). Spectrum of pediatric brain tumors: a report of 341 cases from a tertiary cancer center in India. Indian Journal of Pediatrics, 81, 1089–1091.PubMedCrossRefGoogle Scholar
  100. De Mariano, M., Gallesio, R., Chierici, M., Furlanello, C., Conte, M., Garaventa, A., Croce, M., Ferrini, S., Tonini, G. P., & Longo, L. (2015). Identification of GALNT14 as a novel neuroblastoma predisposition gene. Oncotarget, 6, 26335–26346.PubMedPubMedCentralCrossRefGoogle Scholar
  101. De Rosa, M., Fasano, C., Panariello, L., Scarano, M. I., Belli, G., Iannelli, A., Ciciliano, F., & Izzo, P. (2000). Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene, 19, 1719–1723.PubMedCrossRefGoogle Scholar
  102. DeBaun, M. R., & Tucker, M. A. (1998). Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. The Journal of Pediatrics, 132, 398–400.PubMedCrossRefGoogle Scholar
  103. Dehner, L. P., Jarzembowski, J. A., & Hill, D. A. (2012). Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Modern pathology: an official journal of the United States and Canadian Academy of Pathology, Inc, 25, 602–614.CrossRefGoogle Scholar
  104. Denayer, E., Devriendt, K., de Ravel, T., Van Buggenhout, G., Smeets, E., Francois, I., Sznajer, Y., Craen, M., Leventopoulos, G., Mutesa, L., Vandecasseye, W., Massa, G., Kayserili, H., Sciot, R., Fryns, J. P., & Legius, E. (2010). Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes, Chromosomes & Cancer, 49, 242–252.Google Scholar
  105. Dewire, M. D., Ellison, D. W., Patay, Z., McKinnon, P. J., Sanders, R. P., & Gajjar, A. (2009). Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor. Pediatric Blood & Cancer, 53, 1140–1142.CrossRefGoogle Scholar
  106. Dhar, S. U., Chintagumpala, M., Noll, C., Chevez-Barrios, P., Paysse, E. A., & Plon, S. E. (2011). Outcomes of integrating genetics in management of patients with retinoblastoma. Archives of Ophthalmology, 129, 1428–1434.PubMedCrossRefGoogle Scholar
  107. Diaz, R. C., Amjad, E. H., Sargent, E. W., Larouere, M. J., & Shaia, W. T. (2007). Tumors and pseudotumors of the endolymphatic sac. Skull Base, 17, 379–393.PubMedPubMedCentralCrossRefGoogle Scholar
  108. Dickinson, R. E., Griffin, H., Bigley, V., Reynard, L. N., Hussain, R., Haniffa, M., Lakey, J. H., Rahman, T., Wang, X. N., McGovern, N., Pagan, S., Cookson, S., McDonald, D., Chua, I., Wallis, J., Cant, A., Wright, M., Keavney, B., Chinnery, P. F., Loughlin, J., Hambleton, S., Santibanez-Koref, M., & Collin, M. (2011). Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood, 118, 2656–2658.PubMedPubMedCentralCrossRefGoogle Scholar
  109. Diepgen, T. L., & Mahler, V. (2002). The epidemiology of skin cancer. The British Journal of Dermatology, 146(Suppl 61), 1–6.PubMedCrossRefGoogle Scholar
  110. Diller, L., Sexsmith, E., Gottlieb, A., Li, F. P., & Malkin, D. (1995). Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. The Journal of Clinical Investigation, 95, 1606–1611.PubMedPubMedCentralCrossRefGoogle Scholar
  111. Dilworth, J. P., Farrow, G. M., & Oesterling, J. E. (1991). Non-germ cell tumors of testis. Urology, 37, 399–417.PubMedCrossRefGoogle Scholar
  112. Diniz, G. (2016). In M. M. van den Heuvel-Eibrink (Ed.), Histopathological and molecular characteristics of wilms tumor. Brisbane: Wilms Tumor.Google Scholar
  113. Distel, L., Neubauer, S., Varon, R., Holter, W., & Grabenbauer, G. (2003). Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Medical and Pediatric Oncology, 41, 44–48.PubMedCrossRefGoogle Scholar
  114. Dolecek, T. A., Propp, J. M., Stroup, N. E., & Kruchko, C. (2012). CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005-2009. Neuro-Oncology, 14(Suppl 5), v1–49.PubMedPubMedCentralCrossRefGoogle Scholar
  115. Doros, L., Yang, J., Dehner, L., Rossi, C. T., Skiver, K., Jarzembowski, J. A., Messinger, Y., Schultz, K. A., Williams, G., Andre, N., & Hill, D. A. (2012). DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatric Blood & Cancer, 59, 558–560.CrossRefGoogle Scholar
  116. Doros, L. A., Rossi, C. T., Yang, J., Field, A., Williams, G. M., Messinger, Y., Cajaiba, M. M., Perlman, E. J., A Schultz, K., Cathro, H. P., Legallo, R. D., LaFortune, K. A., Chikwava, K. R., Faria, P., Geller, J. I., Dome, J. S., Mullen, E. A., Gratias, E. J., Dehner, L. P., & Hill, D. A. (2014). DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 27, 1267–1280.Google Scholar
  117. Duchowny, M. S., Resnick, T. J., & Alvarez, L. (1989). Dysplastic gangliocytoma and intractable partial seizures in childhood. Neurology, 39, 602–604.PubMedCrossRefGoogle Scholar
  118. Dumoucel, S., Gauthier-Villars, M., Stoppa-Lyonnet, D., Parisot, P., Brisse, H., Philippe-Chomette, P., Sarnacki, S., Boccon-Gibod, L., Rossignol, S., Baumann, C., Aerts, I., Bourdeaut, F., Doz, F., Orbach, D., Pacquement, H., Michon, J., & Schleiermacher, G. (2014). Malformations, genetic abnormalities, and Wilms tumor. Pediatric Blood & Cancer, 61, 140–144.CrossRefGoogle Scholar
  119. Durno, C. A., Aronson, M., Tabori, U., Malkin, D., Gallinger, S., & Chan, H. S. (2012). Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatric Blood & Cancer, 59, 652–656.CrossRefGoogle Scholar
  120. Durno, C. A., & Gallinger, S. (2006). Genetic predisposition to colorectal cancer: new pieces in the pediatric puzzle. Journal of Pediatric Gastroenterology and Nutrition, 43, 5–15.PubMedCrossRefGoogle Scholar
  121. Eaton, K. W., Tooke, L. S., Wainwright, L. M., Judkins, A. R., & Biegel, J. A. (2011). Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatric Blood & Cancer, 56, 7–15.CrossRefGoogle Scholar
  122. Elliott, M., Bayly, R., Cole, T., Temple, I. K., & Maher, E. R. (1994). Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clinical Genetics, 46, 168–174.PubMedCrossRefGoogle Scholar
  123. Endo, M., Fujii, K., Sugita, K., Saito, K., Kohno, Y., & Miyashita, T. (2012). Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma. American journal of medical genetics. Part A, 158A, 351–357.PubMedCrossRefGoogle Scholar
  124. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R. F., van Amstel, H. K., Lips, C. J., Nishisho, I., Takai, S. I., Marsh, D. J., Robinson, B. G., Frank-Raue, K., Raue, F., Xue, F., Noll, W. W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjold, M., Komminoth, P., Hendy, G. N., Mulligan, L. M., et al. (1996). The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Jama, 276, 1575–1579.PubMedCrossRefGoogle Scholar
  125. Engelhard, H. H., Stelea, A., & Cochran, E. J. (2002). Oligodendroglioma: pathology and molecular biology. Surgical Neurology, 58, 111–117 discussion 117.PubMedCrossRefGoogle Scholar
  126. Erlic, Z., Ploeckinger, U., Cascon, A., Hoffmann, M. M., von Duecker, L., Winter, A., Kammel, G., Bacher, J., Sullivan, M., Isermann, B., Fischer, L., Raffel, A., Knoefel, W. T., Schott, M., Baumann, T., Schaefer, O., Keck, T., Baum, R. P., Milos, I., Muresan, M., Peczkowska, M., Januszewicz, A., Cupisti, K., Tonjes, A., Fasshauer, M., Langrehr, J., von Wussow, P., Agaimy, A., Schlimok, G., Lamberts, R., Wiech, T., Schmid, K. W., Weber, A., Nunez, M., Robledo, M., Eng, C., & Neumann, H. P. (2010). Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. Endocrine-Related Cancer, 17, 875–883.PubMedCrossRefGoogle Scholar
  127. Evans, D. G. (2009). Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet Journal of Rare Diseases, 4, 16.PubMedPubMedCentralCrossRefGoogle Scholar
  128. Evans, D. G., Baser, M. E., McGaughran, J., Sharif, S., Howard, E., & Moran, A. (2002). Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Journal of Medical Genetics, 39, 311–314.PubMedPubMedCentralCrossRefGoogle Scholar
  129. Evans, D. G., Birch, J. M., & Ramsden, R. T. (1999). Paediatric presentation of type 2 neurofibromatosis. Archives of Disease in Childhood, 81, 496–499.PubMedPubMedCentralCrossRefGoogle Scholar
  130. Evans, D. G., Huson, S. M., & Birch, J. M. (2012). Malignant peripheral nerve sheath tumours in inherited disease. Clinical sarcoma research, 2, 17.PubMedPubMedCentralCrossRefGoogle Scholar
  131. Evans, D. G., Huson, S. M., Donnai, D., Neary, W., Blair, V., Newton, V., & Harris, R. (1992). A clinical study of type 2 neurofibromatosis. The Quarterly Journal of Medicine, 84, 603–618.PubMedGoogle Scholar
  132. Evans, D. G., Ramsden, R. T., Shenton, A., Gokhale, C., Bowers, N. L., Huson, S. M., Pichert, G., & Wallace, A. (2007). Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. Journal of Medical Genetics, 44, 424–428.PubMedPubMedCentralCrossRefGoogle Scholar
  133. Evans, G., Burnell, L., Campbell, R., Gattamaneni, H. R., & Birch, J. (1993). Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma. Medical and Pediatric Oncology, 21, 433–434.PubMedCrossRefGoogle Scholar
  134. Fahiminiya, S., Witkowski, L., Nadaf, J., Carrot-Zhang, J., Goudie, C., Hasselblatt, M., Johann, P., Kool, M., Lee, R. S., Gayden, T., Roberts, C. W., Biegel, J. A., Jabado, N., Majewski, J., & Foulkes, W. D. (2016). Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget, 7, 1732–1740.PubMedGoogle Scholar
  135. Faranoush, M., Bahoush, G. R., Mehrvar, A., Hejazi, S., Vossough, P., Hedayatiasl, A. A., Rahiminejad, M. S., Seighali, F., Ghorbani, R., & Ehsani, M. A. (2009). Wilm's tumor: epidemiology and survival. Research Journal of Biological Sciences, 4, 86–89.Google Scholar
  136. Farid, M., Demicco, E. G., Garcia, R., Ahn, L., Merola, P. R., Cioffi, A., & Maki, R. G. (2014). Malignant peripheral nerve sheath tumors. The Oncologist, 19, 193–201.PubMedPubMedCentralCrossRefGoogle Scholar
  137. Felsher, D. W. (2013). Role of MYCN in retinoblastoma. The Lancet Oncology, 14, 270–271.PubMedCrossRefGoogle Scholar
  138. Ferouz, A. S., Mohr, R. M., & Paul, P. (1995). Juvenile nasopharyngeal angiofibroma and familial adenomatous polyposis: an association? Otolaryngology--head and neck surgery: official journal of American Academy of Otolaryngology-Head and Neck Surgery, 113, 435–439.CrossRefGoogle Scholar
  139. Fishbein, L., Merrill, S., Fraker, D. L., Cohen, D. L., & Nathanson, K. L. (2013). Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Annals of Surgical Oncology, 20, 1444–1450.PubMedPubMedCentralCrossRefGoogle Scholar
  140. Foulkes, W. D., Bahubeshi, A., Hamel, N., Pasini, B., Asioli, S., Baynam, G., Choong, C. S., Charles, A., Frieder, R. P., Dishop, M. K., Graf, N., Ekim, M., Bouron-Dal Soglio, D., Arseneau, J., Young, R. H., Sabbaghian, N., Srivastava, A., Tischkowitz, M. D., & Priest, J. R. (2011). Extending the phenotypes associated with DICER1 mutations. Human Mutation, 32, 1381–1384.PubMedCrossRefGoogle Scholar
  141. Fried, I., Tabori, U., Tihan, T., Reginald, A., & Bouffet, E. (2013). Optic pathway gliomas: a review. CNS Oncol, 2, 143–159.PubMedCrossRefGoogle Scholar
  142. Fruhwald, M. C., Hasselblatt, M., Wirth, S., Kohler, G., Schneppenheim, R., Subero, J. I., Siebert, R., Kordes, U., Jurgens, H., & Vormoor, J. (2006). Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatric Blood & Cancer, 47, 273–278.CrossRefGoogle Scholar
  143. Fujii, K., Ohashi, H., Suzuki, M., Hatsuse, H., Shiohama, T., Uchikawa, H., & Miyashita, T. (2013). Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Familial Cancer, 12, 611–614.PubMedCrossRefGoogle Scholar
  144. Gao, J., Gentzler, R. D., Timms, A. E., Horwitz, M. S., Frankfurt, O., Altman, J. K., & Peterson, L. C. (2014). Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature. Journal of Hematology & Oncology, 7, 36.CrossRefGoogle Scholar
  145. Garre, M. L., Cama, A., Bagnasco, F., Morana, G., Giangaspero, F., Brisigotti, M., Gambini, C., Forni, M., Rossi, A., Haupt, R., Nozza, P., Barra, S., Piatelli, G., Viglizzo, G., Capra, V., Bruno, W., Pastorino, L., Massimino, M., Tumolo, M., Fidani, P., Dallorso, S., Schumacher, R. F., Milanaccio, C., & Pietsch, T. (2009). Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research, 15, 2463–2471.CrossRefGoogle Scholar
  146. German, J. (1997). Bloom's syndrome. XX. The first 100 cancers. Cancer Genetics and Cytogenetics, 93, 100–106.PubMedCrossRefGoogle Scholar
  147. Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W., Church, J. M., Dominitz, J. A., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D. A., Robertson, D. J., Syngal, S., & Rex, D. K. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. The American Journal of Gastroenterology, 109, 1159–1179.PubMedCrossRefGoogle Scholar
  148. Giardiello, F. M., Offerhaus, G. J., Krush, A. J., Booker, S. V., Tersmette, A. C., Mulder, J. W., Kelley, C. N., & Hamilton, S. R. (1991). Risk of hepatoblastoma in familial adenomatous polyposis. The Journal of Pediatrics, 119, 766–768.PubMedCrossRefGoogle Scholar
  149. Gil, A.T., Brett, A., Cordinha, C., & Gomes, C. (2013). Bilateral renal cell carcinoma in a paediatric patient with tuberous sclerosis complex. BMJ Case Reports, 2013.Google Scholar
  150. Goh, S., Butler, W., & Thiele, E. A. (2004). Subependymal giant cell tumors in tuberous sclerosis complex. Neurology, 63, 1457–1461.PubMedCrossRefGoogle Scholar
  151. Goldstein, S. A., & Hoffenberg, E. J. (2013). Peutz-Jegher syndrome in childhood: need for updated recommendations? Journal of Pediatric Gastroenterology and Nutrition, 56, 191–195.PubMedCrossRefGoogle Scholar
  152. Gonzalez, K. D., Noltner, K. A., Buzin, C. H., Gu, D., Wen-Fong, C. Y., Nguyen, V. Q., Han, J. H., Lowstuter, K., Longmate, J., Sommer, S. S., & Weitzel, J. N. (2009). Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 27, 1250–1256.CrossRefGoogle Scholar
  153. Goodman, M., Lamm, S. H., Engel, A., Shepherd, C. W., Houser, O. W., & Gomez, M. R. (1997). Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. Journal of Child Neurology, 12, 85–90.PubMedCrossRefGoogle Scholar
  154. Gorlin, R. J. (2004). Nevoid basal cell carcinoma (Gorlin) syndrome. Genetics in medicine: official journal of the American College of Medical Genetics, 6, 530–539.CrossRefGoogle Scholar
  155. Goutagny, S., & Kalamarides, M. (2010). Meningiomas and neurofibromatosis. Journal of Neuro-Oncology, 99, 341–347.PubMedCrossRefGoogle Scholar
  156. Gozali, A. E., Britt, B., Shane, L., Gonzalez, I., Gilles, F., McComb, J. G., Krieger, M. D., Lavey, R. S., Shlien, A., Villablanca, J. G., Erdreich-Epstein, A., Dhall, G., Jubran, R., Tabori, U., Malkin, D., & Finlay, J. L. (2012). Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010. Pediatric Blood & Cancer, 58, 905–909.CrossRefGoogle Scholar
  157. Gripp, K. W., Scott Jr., C. I., Nicholson, L., McDonald-McGinn, D. M., Ozeran, J. D., Jones, M. C., Lin, A. E., & Zackai, E. H. (2002). Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. American Journal of Medical Genetics, 108, 80–87.PubMedCrossRefGoogle Scholar
  158. Grygotis, L. A., & Chew, F. S. (1997). Choroid plexus carcinoma of the lateral ventricle. AJR. American Journal of Roentgenology, 169, 1400.PubMedCrossRefGoogle Scholar
  159. Gudbjartsson, T., Jonasdottir, T. J., Thoroddsen, A., Einarsson, G. V., Jonsdottir, G. M., Kristjansson, K., Hardarson, S., Magnusson, K., Gulcher, J., Stefansson, K., & Amundadottir, L. T. (2002). A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas. International journal of cancer. Journal international du cancer, 100, 476–479.PubMedCrossRefGoogle Scholar
  160. Guha, A., Glowacka, D., Carroll, R., Dashner, K., Black, P. M., & Stiles, C. D. (1995). Expression of platelet derived growth factor and platelet derived growth factor receptor mRNA in a glioblastoma from a patient with Li-Fraumeni syndrome. Journal of Neurology, Neurosurgery, and Psychiatry, 58, 711–714.PubMedPubMedCentralCrossRefGoogle Scholar
  161. Hahn, C. N., Chong, C. E., Carmichael, C. L., Wilkins, E. J., Brautigan, P. J., Li, X. C., Babic, M., Lin, M., Carmagnac, A., Lee, Y. K., Kok, C. H., Gagliardi, L., Friend, K. L., Ekert, P. G., Butcher, C. M., Brown, A. L., Lewis, I. D., To, L.B, Timms, A. E., Storek, J., Moore, S., Altree, M., Escher, R., Bardy, P. G., Suthers, G. K., D'Andrea, R. J., Horwitz, M. S., & Scott, H. S. (2011). Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics, 43, 1012–1017.PubMedPubMedCentralCrossRefGoogle Scholar
  162. Half, E., Bercovich, D., & Rozen, P. (2009). Familial adenomatous polyposis. Orphanet Journal of Rare Diseases, 4, 22.PubMedPubMedCentralCrossRefGoogle Scholar
  163. Halfdanarson, T. R., Rabe, K. G., Rubin, J., & Petersen, G. M. (2008). Pancreatic neuroendocrine tumors (PNETs): incidence, prognosis and recent trend toward improved survival. Annals of Oncology, 19, 1727–1733.PubMedPubMedCentralCrossRefGoogle Scholar
  164. Hamazaki, S., Yoshida, M., Yao, M., Nagashima, Y., Taguchi, K., Nakashima, H., & Okada, S. (2001). Mutation of von Hippel-Lindau tumor suppressor gene in a sporadic endolymphatic sac tumor. Human Pathology, 32, 1272–1276.PubMedCrossRefGoogle Scholar
  165. Hammond, P. J., Murphy, D., Carachi, R., Davidson, D. F., & McIntosh, D. (2010). Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival. Journal of Pediatric Surgery, 45, 383–386.PubMedCrossRefGoogle Scholar
  166. Hampel, H., Bennett, R. L., Buchanan, A., Pearlman, R., & Wiesner, G. L. (2015). A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genetics in medicine: official journal of the American College of Medical Genetics, 17, 70–87.CrossRefGoogle Scholar
  167. Haning Jr., R. V., Chesney, R. W., Moorthy, A. V., & Gilbert, E. F. (1985). A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation, 6, 40–48.CrossRefGoogle Scholar
  168. Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., Fitzpatrick, D., Kidd, A., Mehes, K., Nash, R., Robin, N., Shannon, N., Tolmie, J., Swansbury, J., Irrthum, A., Douglas, J., & Rahman, N. (2004). Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nature Genetics, 36, 1159–1161.PubMedCrossRefGoogle Scholar
  169. Hanks, S., Perdeaux, E. R., Seal, S., Ruark, E., Mahamdallie, S. S., Murray, A., Ramsay, E., Del Vecchio Duarte, S., Zachariou, A., de Souza, B., Warren-Perry, M., Elliott, A., Davidson, A., Price, H., Stiller, C., Pritchard-Jones, K., & Rahman, N. (2014). Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour. Nature Communications, 5, 4398.PubMedPubMedCentralCrossRefGoogle Scholar
  170. Harding, C. O., & Pagon, R. A. (1990). Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. American Journal of Medical Genetics, 37, 443–446.PubMedCrossRefGoogle Scholar
  171. Hasselblatt, M., Nagel, I., Oyen, F., Bartelheim, K., Russell, R. B., Schuller, U., Junckerstorff, R., Rosenblum, M., Alassiri, A. H., Rossi, S., Schmid, I., Gottardo, N. G., Toledano, H., Viscardi, E., Balbin, M., Witkowski, L., Lu, Q., Betts, M. J., Foulkes, W. D., Siebert, R., Fruhwald, M. C., & Schneppenheim, R. (2014). SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathologica, 128, 453–456.PubMedCrossRefGoogle Scholar
  172. Heath, J. A., Ng, J., Beshay, V., Coleman, L., Lo, P., & Amor, D. J. (2013). Anaplastic oligodendroglioma in an adolescent with Lynch syndrome. Pediatric Blood & Cancer, 60, E13–E15.CrossRefGoogle Scholar
  173. Helgadottir, H., Hoiom, V., Tuominen, R., Nielsen, K., Jonsson, G., Olsson, H., & Hansson, J. (2016). Germline CDKN2A mutation status and survival in familial melanoma cases. Journal of the National Cancer Institute, 108.Google Scholar
  174. Hensen, E. F., Jordanova, E. S., van Minderhout, I. J., Hogendoorn, P. C., Taschner, P. E., van der Mey, A. G., Devilee, P., & Cornelisse, C. J. (2004). Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene, 23, 4076–4083.PubMedCrossRefGoogle Scholar
  175. Heo, S. H., Kim, J. W., Shin, S. S., Jeong, S. I., Lim, H. S., Choi, Y. D., Lee, K. H., Kang, W. D., Jeong, Y. Y., & Kang, H. K. (2014). Review of ovarian tumors in children and adolescents: radiologic-pathologic correlation. Radiographics: a review publication of the Radiological Society of North America, Inc, 34, 2039–2055.CrossRefGoogle Scholar
  176. Herzog, C. E., Andrassy, R. J., & Eftekhari, F. (2000). Childhood cancers: hepatoblastoma. The Oncologist, 5, 445–453.PubMedCrossRefGoogle Scholar
  177. Hill, D. A., Ivanovich, J., Priest, J. R., Gurnett, C. A., Dehner, L. P., Desruisseau, D., Jarzembowski, J. A., Wikenheiser-Brokamp, K. A., Suarez, B. K., Whelan, A. J., Williams, G., Bracamontes, D., Messinger, Y., & Goodfellow, P. J. (2009). DICER1 mutations in familial pleuropulmonary blastoma. Science, 325, 965.PubMedPubMedCentralCrossRefGoogle Scholar
  178. Hilton, D. A., & Hanemann, C. O. (2014). Schwannomas and their pathogenesis. Brain Pathology, 24, 205–220.PubMedCrossRefGoogle Scholar
  179. Hirsch, B., Shimamura, A., Moreau, L., Baldinger, S., Hag-alshiekh, M., Bostrom, B., Sencer, S., & D'Andrea, A. D. (2004). Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood, 103, 2554–2559.PubMedCrossRefGoogle Scholar
  180. Hirschman, B. A., Pollock, B. H., & Tomlinson, G. E. (2005). The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. The Journal of Pediatrics, 147, 263–266.PubMedCrossRefGoogle Scholar
  181. Holmfeldt, L., Wei, L., Diaz-Flores, E., Walsh, M., Zhang, J., Ding, L., Payne-Turner, D., Churchman, M., Andersson, A., Chen, S. C., McCastlain, K., Becksfort, J., Ma, J., Wu, G., Patel, S. N., Heatley, S. L., Phillips, L. A., Song, G., Easton, J., Parker, M., Chen, X., Rusch, M., Boggs, K., Vadodaria, B., Hedlund, E., Drenberg, C., Baker, S., Pei, D., Cheng, C., Huether, R., Lu, C., Fulton, R. S., Fulton, L. L., Tabib, Y., Dooling, D. J., Ochoa, K., Minden, M., Lewis, I. D., To, L. B., Marlton, P., Roberts, A. W., Raca, G., Stock, W., Neale, G., Drexler, H. G., Dickins, R. A., Ellison, D. W., Shurtleff, S. A., Pui, C. H., Ribeiro, R. C., Devidas, M., Carroll, A. J., Heerema, N. A., Wood, B., Borowitz, M. J., Gastier-Foster, J. M., Raimondi, S. C., Mardis, E. R., Wilson, R. K., Downing, J. R., Hunger, S. P., Loh, M. L., & Mullighan, C. G. (2013). The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nature Genetics, 45, 242–252.PubMedPubMedCentralCrossRefGoogle Scholar
  182. Hulsebos, T. J., Plomp, A. S., Wolterman, R. A., Robanus-Maandag, E. C., Baas, F., & Wesseling, P. (2007). Germline mutation of INI1/SMARCB1 in familial schwannomatosis. American Journal of Human Genetics, 80, 805–810.PubMedPubMedCentralCrossRefGoogle Scholar
  183. Ilencikova, D., Sejnova, D., Jindrova, J., & Babal, P. (2011). High-grade brain tumors in siblings with biallelic MSH6 mutations. Pediatric Blood & Cancer, 57, 1067–1070.CrossRefGoogle Scholar
  184. Jaeckle, K. A., Decker, P. A., Ballman, K. V., Flynn, P. J., Giannini, C., Scheithauer, B. W., Jenkins, R. B., & Buckner, J. C. (2011). Transformation of low grade glioma and correlation with outcome: an NCCTG database analysis. Journal of Neuro-Oncology, 104, 253–259.PubMedCrossRefGoogle Scholar
  185. Jafri, M., & Maher, E. R. (2012). The genetics of phaeochromocytoma: using clinical features to guide genetic testing. European journal of endocrinology / European Federation of Endocrine Societies, 166, 151–158.CrossRefGoogle Scholar
  186. James, R., Lightfoot, T., Simpson, J., Moorman, A. V., Roman, E., Kinsey, S., & Investigators, U. K. C. C. S. (2008). Acute leukemia in children with Down's syndrome: the importance of population based study. Haematologica, 93, 1262–1263.PubMedCrossRefGoogle Scholar
  187. Janov, A. J., Leong, T., Nathan, D. G., & Guinan, E. C. (1996). Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine, 75, 77–78.PubMedCrossRefGoogle Scholar
  188. Jasperson, K. W. (2012). Genetic testing by cancer site: colon (polyposis syndromes). Cancer Journal, 18, 328–333.CrossRefGoogle Scholar
  189. Jelsig, A. M., Qvist, N., Brusgaard, K., Nielsen, C. B., Hansen, T. P., & Ousager, L. B. (2014). Hamartomatous polyposis syndromes: a review. Orphanet Journal of Rare Diseases, 9, 101.PubMedPubMedCentralCrossRefGoogle Scholar
  190. Jensen, R. L., Gillespie, D., House, P., Layfield, L., & Shelton, C. (2004). Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: the role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression. Journal of Neurosurgery, 100, 488–497.PubMedCrossRefGoogle Scholar
  191. Jongmans, M. C., Hoogerbrugge, P. M., Hilkens, L., Flucke, U., van der Burgt, I., Noordam, K., Ruiterkamp-Versteeg, M., Yntema, H. G., Nillesen, W. M., Ligtenberg, M. J., van Kessel, A. G., Kuiper, R. P., & Hoogerbrugge, N. (2010). Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. Genes, Chromosomes & Cancer, 49, 635–641.CrossRefGoogle Scholar
  192. Jóźwiak, S., Kwiatkowski, D., Kotulska, K., Larysz-Brysz, M., Lewin-Kowalik, J., Grajkowska, W., & Roszkowski, M. (2004). Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. Journal of Child Neurology, 19, 102–106.PubMedGoogle Scholar
  193. Jozwiak, S., Kotulska, K., Kasprzyk-Obara, J., Domanska-Pakiela, D., Tomyn-Drabik, M., Roberts, P., & Kwiatkowski, D. (2006). Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics, 118, e1146–e1151.PubMedCrossRefGoogle Scholar
  194. Kaderali, Z., Lamberti-Pasculli, M., & Rutka, J. T. (2009). The changing epidemiology of paediatric brain tumours: a review from the Hospital for Sick Children. Child's nervous system: ChNS: official journal of the International Society for Pediatric Neurosurgery, 25, 787–793.CrossRefGoogle Scholar
  195. Kajii, T., Ikeuchi, T., Yang, Z. Q., Nakamura, Y., Tsuji, Y., Yokomori, K., Kawamura, M., Fukuda, S., Horita, S., & Asamoto, A. (2001). Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants. American Journal of Medical Genetics, 104, 57–64.PubMedCrossRefGoogle Scholar
  196. Kanno, H., Kuratsu, J., Nishikawa, R., Mishima, K., Natsume, A., Wakabayashi, T., Houkin, K., Terasaka, S., & Shuin, T. (2013). Clinical features of patients bearing central nervous system hemangioblastoma in von Hippel-Lindau disease. Acta Neurochirurgica, 155, 1–7.PubMedCrossRefGoogle Scholar
  197. Kattentidt Mouravieva, A. A., Geurts-Giele, I. R., de Krijger, R. R., van Noesel, M. M., van de Ven, C. P., van den Ouweland, A. M., Kromosoeto, J. N., Dinjens, W. N., Dubbink, H. J., Smits, R., & Wagner, A. (2012). Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours. European Journal of Cancer, 48, 1867–1874.PubMedCrossRefGoogle Scholar
  198. Kaufman, D. K., Kimmel, D. W., Parisi, J. E., & Michels, V. V. (1993). A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology, 43, 1728–1731.PubMedCrossRefGoogle Scholar
  199. Kelly, D., Sharif, K., Brown, R. M., & Morland, B. (2015). Hepatocellular Carcinoma in Children. Clinics in Liver Disease, 19, 433–447.PubMedCrossRefGoogle Scholar
  200. Kijima, C., Miyashita, T., Suzuki, M., Oka, H., & Fujii, K. (2012). Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Familial Cancer, 11, 565–570.PubMedCrossRefGoogle Scholar
  201. Kim, G., Baik, S. H., Lee, K. Y., Hur, H., Min, B. S., Lyu, C. J., & Kim, N. K. (2013). Colon carcinoma in childhood: review of the literature with four case reports. International Journal of Colorectal Disease, 28, 157–164.PubMedCrossRefGoogle Scholar
  202. Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., & Bale, S. J. (1997). Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics, 69, 299–308.PubMedCrossRefGoogle Scholar
  203. Kirkpatrick, G., Noetzli, L., Di Paola, J., & Porter, C. C. (2015). ETV6 mutations define a new cancer predisposition syndrome. Oncotarget, 6, 16830–16831.PubMedPubMedCentralCrossRefGoogle Scholar
  204. Kivela, T. (1999). Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 17, 1829–1837.CrossRefGoogle Scholar
  205. Kleinerman, R. A., Schonfeld, S. J., & Tucker, M. A. (2012). Sarcomas in hereditary retinoblastoma. Clinical sarcoma research, 2, 15.PubMedPubMedCentralCrossRefGoogle Scholar
  206. Knapke, S., Nagarajan, R., Correll, J., Kent, D., & Burns, K. (2012). Hereditary cancer risk assessment in a pediatric oncology follow-up clinic. Pediatric Blood & Cancer, 58, 85–89.CrossRefGoogle Scholar
  207. Kordes, U., Bartelheim, K., Modena, P., Massimino, M., Biassoni, V., Reinhard, H., Hasselblatt, M., Schneppenheim, R., & Fruhwald, M. C. (2014). Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). Pediatric Blood & Cancer, 61, 919–921.CrossRefGoogle Scholar
  208. Kornreich, L., Blaser, S., Schwarz, M., Shuper, A., Vishne, T. H., Cohen, I. J., Faingold, R., Michovitz, S., Koplewitz, B., & Horev, G. (2001). Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. AJNR American journal of neuroradiology, 22, 1963–1969.PubMedGoogle Scholar
  209. Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J. P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P. F., van Nederveen, F. H., Dinjens, W. N., Gimenez-Roqueplo, A. P., & de Krijger, R. R. (2011). SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. The Journal of Clinical Endocrinology and Metabolism, 96, E1472–E1476.PubMedCrossRefGoogle Scholar
  210. Kraemer, K. H., Lee, M. M., & Scotto, J. (1987). Xeroderma pigmentosum: Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Archives of Dermatology, 123, 241–250.PubMedCrossRefGoogle Scholar
  211. Krampitz, G. W., & Norton, J. A. (2014). RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Cancer, 120, 1920–1931.PubMedCrossRefGoogle Scholar
  212. Kratz, C. P., Holter, S., Etzler, J., Lauten, M., Pollett, A., Niemeyer, C. M., Gallinger, S., & Wimmer, K. (2009). Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. Journal of Medical Genetics, 46, 418–420.PubMedCrossRefGoogle Scholar
  213. Kratz, C. P., Rapisuwon, S., Reed, H., Hasle, H., & Rosenberg, P. S. (2011). Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 157c, 83–89.PubMedCrossRefGoogle Scholar
  214. Kreusel, K. M. (2005). Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications. Familial Cancer, 4, 43–47.PubMedCrossRefGoogle Scholar
  215. Krivit, W., & Good, R. A. (1957). Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey. A.M.A. journal of diseases of children, 94, 289–293.PubMedCrossRefGoogle Scholar
  216. Krutilkova, V., Trkova, M., Fleitz, J., Gregor, V., Novotna, K., Krepelova, A., Sumerauer, D., Kodet, R., Siruckova, S., Plevova, P., Bendova, S., Hedvicakova, P., Foreman, N. K., & Sedlacek, Z. (2005). Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. European Journal of Cancer, 41, 1597–1603.PubMedCrossRefGoogle Scholar
  217. Kubo, M., Iwashita, K., Oyachi, N., Oyama, T., & Yamamoto, T. (2011). Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. Journal of Pediatric Surgery, 46, E37–E41.PubMedCrossRefGoogle Scholar
  218. Kulkarni, K., Stobart, K., & Noga, M. (2013). A case of Sotos syndrome with neuroblastoma. Journal of Pediatric Hematology/Oncology, 35, 238–239.PubMedCrossRefGoogle Scholar
  219. Kuratsu, J., Kochi, M., & Ushio, Y. (2000). Incidence and clinical features of asymptomatic meningiomas. Journal of Neurosurgery, 92, 766–770.PubMedCrossRefGoogle Scholar
  220. Kurek, K. C., Luks, V. L., Ayturk, U. M., Alomari, A. I., Fishman, S. J., Spencer, S. A., Mulliken, J. B., Bowen, M. E., Yamamoto, G. L., Kozakewich, H. P., & Warman, M. L. (2012). Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. American Journal of Human Genetics, 90, 1108–1115.PubMedPubMedCentralCrossRefGoogle Scholar
  221. Kutler, D. I., Auerbach, A. D., Satagopan, J., Giampietro, P. F., Batish, S. D., Huvos, A. G., Goberdhan, A., Shah, J. P., & Singh, B. (2003a). High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia. Archives of otolaryngology--head & neck surgery, 129, 106–112.CrossRefGoogle Scholar
  222. Kutler, D. I., Singh, B., Satagopan, J., Batish, S. D., Berwick, M., Giampietro, P. F., Hanenberg, H., & Auerbach, A. D. (2003b). A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood, 101, 1249–1256.PubMedCrossRefGoogle Scholar
  223. Kuvat, S. V., Gucin, Z., Keklik, B., Ozyalvacli, G., & Basaran, K. (2011). Basal cell carcinoma in a child. Journal of Skin Cancer, 2011, 752901.PubMedCrossRefGoogle Scholar
  224. Kwong, Y. L., Ng, M. H., & Ma, S. K. (2000). Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell. Cancer Genetics and Cytogenetics, 116, 170–173.PubMedCrossRefGoogle Scholar
  225. Lachenaud, J., Strullu, M., Baruchel, A., & Cave, H. (2014). Juvenile myelomonocytic leukemias. Bulletin du Cancer, 101, 302–313.PubMedGoogle Scholar
  226. Lachlan, K. L., Lucassen, A. M., Bunyan, D., & Temple, I. K. (2007). Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. Journal of Medical Genetics, 44, 579–585.PubMedPubMedCentralCrossRefGoogle Scholar
  227. Langer, P., Cupisti, K., Bartsch, D. K., Nies, C., Goretzki, P. E., Rothmund, M., & Roher, H. D. (2002). Adrenal involvement in multiple endocrine neoplasia type 1. World Journal of Surgery, 26, 891–896.PubMedCrossRefGoogle Scholar
  228. Lapunzina, P. (2005). Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. American journal of medical genetics. Part C, Seminars in medical genetics, 137C, 53–71.PubMedCrossRefGoogle Scholar
  229. Lapunzina, P., Badia, I., Galoppo, C., De Matteo, E., Silberman, P., Tello, A., Grichener, J., & Hughes-Benzie, R. (1998). A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. Journal of Medical Genetics, 35, 153–156.PubMedPubMedCentralCrossRefGoogle Scholar
  230. Larizza, L., Roversi, G., & Volpi, L. (2010). Rothmund-Thomson syndrome. Orphanet Journal of Rare Diseases, 5, 2.PubMedPubMedCentralCrossRefGoogle Scholar
  231. Lau, C. S., Mahendraraj, K., & Chamberlain, R. S. (2015). Hepatocellular Carcinoma in the Pediatric Population: A Population Based Clinical Outcomes Study Involving 257 Patients from the Surveillance, Epidemiology, and End Result (SEER) Database (1973-2011). HPB Surgery, 2015, 670728.PubMedPubMedCentralGoogle Scholar
  232. Lee, C. H., Spence, R. A., Upadhyaya, M., & Morrison, P. J. (2011). Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. BMJ case reports, 2011.Google Scholar
  233. Lee, R. S., Higgs, D., Haddo, O., Pringle, J., & Briggs, T. W. (2004). Osteosarcoma associated with diamond-blackfan anaemia: a case of a child receiving growth hormone therapy. Sarcoma, 8, 47–49.PubMedPubMedCentralCrossRefGoogle Scholar
  234. Lefebvre, M., & Foulkes, W. D. (2014). Pheochromocytoma and paraganglioma syndromes: genetics and management update. Current Oncology, 21, e8–e17.PubMedPubMedCentralCrossRefGoogle Scholar
  235. Lerario, A. M., Moraitis, A., & Hammer, G. D. (2014). Genetics and epigenetics of adrenocortical tumors. Molecular and Cellular Endocrinology, 386, 67–84.PubMedCrossRefGoogle Scholar
  236. LeSueur, B. W., Silvis, N. G., & Hansen, R. C. (2000). Basal cell carcinoma in children: report of 3 cases. Archives of Dermatology, 136, 370–372.PubMedCrossRefGoogle Scholar
  237. Lewis, R. A., Gerson, L. P., Axelson, K. A., Riccardi, V. M., & Whitford, R. P. (1984). von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology, 91, 929–935.PubMedCrossRefGoogle Scholar
  238. Li, M., Shuman, C., Fei, Y. L., Cutiongco, E., Bender, H. A., Stevens, C., Wilkins-Haug, L., Day-Salvatore, D., Yong, S. L., Geraghty, M. T., Squire, J., & Weksberg, R. (2001). GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics, 102, 161–168.PubMedCrossRefGoogle Scholar
  239. Li, M., Squire, J. A., & Weksberg, R. (1997). Molecular genetics of Beckwith-Wiedemann syndrome. Current Opinion in Pediatrics, 9, 623–629.PubMedCrossRefGoogle Scholar
  240. Li, M., Squire, J. A., & Weksberg, R. (1998). Molecular genetics of Wiedemann-Beckwith syndrome. American Journal of Medical Genetics, 79, 253–259.PubMedCrossRefGoogle Scholar
  241. Li, Y., Schwab, C., Ryan, S. L., Papaemmanuil, E., Robinson, H. M., Jacobs, P., Moorman, A. V., Dyer, S., Borrow, J., Griffiths, M., Heerema, N. A., Carroll, A. J., Talley, P., Bown, N., Telford, N., Ross, F. M., Gaunt, L., McNally, R. J., Young, B. D., Sinclair, P., Rand, V., Teixeira, M. R., Joseph, O., Robinson, B., Maddison, M., Dastugue, N., Vandenberghe, P., Haferlach, C., Stephens, P. J., Cheng, J., Van Loo, P., Stratton, M. R., Campbell, P. J., & Harrison, C. J. (2014). Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia. Nature, 508, 98–102.PubMedPubMedCentralCrossRefGoogle Scholar
  242. Linabery, A. M., & Ross, J. A. (2008). Trends in childhood cancer incidence in the U.S. (1992-2004). Cancer, 112, 416–432.PubMedCrossRefGoogle Scholar
  243. Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., Blumhorst, C., Brockmann, K., Calder, P., Cherman, N., Deardorff, M. A., Everman, D. B., Golas, G., Greenstein, R. M., Kato, B. M., Keppler-Noreuil, K. M., Kuznetsov, S. A., Miyamoto, R. T., Newman, K., Ng, D., O'Brien, K., Rothenberg, S., Schwartzentruber, D. J., Singhal, V., Tirabosco, R., Upton, J., Wientroub, S., Zackai, E. H., Hoag, K., Whitewood-Neal, T., Robey, P. G., Schwartzberg, P. L., Darling, T. N., Tosi, L. L., Mullikin, J. C., & Biesecker, L. G. (2011). A mosaic activating mutation in AKT1 associated with the Proteus syndrome. The New England Journal of Medicine, 365, 611–619.PubMedPubMedCentralCrossRefGoogle Scholar
  244. Linehan, W. M., Rubin, J. S., & Bottaro, D. P. (2009). VHL loss of function and its impact on oncogenic signaling networks in clear cell renal cell carcinoma. The International Journal of Biochemistry & Cell Biology, 41, 753–756.CrossRefGoogle Scholar
  245. Lipton, J. M., Federman, N., Khabbaze, Y., Schwartz, C. L., Hilliard, L. M., Clark, J. I., Vlachos, A., & Diamond-Black Anemia, R. (2001). Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. Journal of Pediatric Hematology/Oncology, 23, 39–44.PubMedCrossRefGoogle Scholar
  246. Listernick, R., Charrow, J., Greenwald, M., & Mets, M. (1994). Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. The Journal of Pediatrics, 125, 63–66.PubMedCrossRefGoogle Scholar
  247. Listernick, R., Ferner, R. E., Piersall, L., Sharif, S., Gutmann, D. H., & Charrow, J. (2004). Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology, 63, 1944–1946.PubMedCrossRefGoogle Scholar
  248. Lloyd, S. K., & Evans, D. G. (2013). Neurofibromatosis type 2 (NF2): diagnosis and management. Handbook of Clinical Neurology, 115, 957–967.PubMedCrossRefGoogle Scholar
  249. Lok, C., Viseux, V., Avril, M. F., Richard, M. A., Gondry-Jouet, C., Deramond, H., Desfossez-Tribout, C., Courtade, S., Delaunay, M., Piette, F., Legars, D., Dreno, B., Saiag, P., Longy, M., Lorette, G., Laroche, L., Caux, F., & Cancerology Group of the French Society of, D. (2005). Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine, 84, 129–136.PubMedCrossRefGoogle Scholar
  250. Lonser, R. R., Glenn, G. M., Walther, M., Chew, E. Y., Libutti, S. K., Linehan, W. M., & Oldfield, E. H. (2003). von Hippel-Lindau disease. Lancet, 361, 2059–2067.PubMedCrossRefGoogle Scholar
  251. Luande, J., Henschke, C. I., & Mohammed, N. (1985). The Tanzanian human albino skin. Natural history. Cancer, 55, 1823–1828.PubMedCrossRefGoogle Scholar
  252. Lusis, E. A., Travers, S., Jost, S. C., & Perry, A. (2010). Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases. Neurosurgery, 67, 811–817 discussion 817.PubMedCrossRefGoogle Scholar
  253. Ma, G. L., Murphy, J. D., Martinez, M. E., & Sicklick, J. K. (2015). Epidemiology of gastrointestinal stromal tumors in the era of histology codes: results of a population-based study. Cancer Epidemiology, Biomarkers & Prevention, 24, 298–302.CrossRefGoogle Scholar
  254. MacCarthy, A., Bayne, A. M., Draper, G. J., Eatock, E. M., Kroll, M. E., Stiller, C. A., Vincent, T. J., Hawkins, M. M., Jenkinson, H. C., Kingston, J. E., Neale, R., & Murphy, M. F. (2009). Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004. The British Journal of Ophthalmology, 93, 1159–1162.PubMedCrossRefGoogle Scholar
  255. Mahamdallie, S. S., Hanks, S., Karlin, K. L., Zachariou, A., Perdeaux, E. R., Ruark, E., Shaw, C. A., Renwick, A., Ramsay, E., Yost, S., Elliott, A., Birch, J., Capra, M., Gray, J., Hale, J., Kingston, J., Levitt, G., McLean, T., Sheridan, E., Renwick, A., Seal, S., Stiller, C., Sebire, N., Westbrook, T. F., & Rahman, N. (2015). Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nature Genetics, 47, 1471–1474.PubMedCrossRefGoogle Scholar
  256. Maher, E. R., Neumann, H. P., & Richard, S. (2011). von Hippel-Lindau disease: a clinical and scientific review. European journal of human genetics: EJHG, 19, 617–623.PubMedPubMedCentralCrossRefGoogle Scholar
  257. Malkin, D., Li, F. P., Strong, L. C., Fraumeni Jr., J. F., Nelson, C. E., Kim, D. H., Kassel, J., Gryka, M. A., Bischoff, F. Z., Tainsky, M. A., et al. (1990). Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science, 250, 1233–1238.PubMedCrossRefGoogle Scholar
  258. Mancilla, E. E., Poggi, H., Repetto, G., Rumie, H., Garcia, H., Ugarte, F., Hidalgo, S., Jara, A., Muzzo, S., Panteon, E., Torrealba, I., Foradori, A., & Cattani, A. (2003). Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma. Journal of pediatric endocrinology & metabolism: JPEM, 16, 1157–1163.CrossRefGoogle Scholar
  259. Manfredi, M. (2010). Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood. Gastroenterology & hepatology, 6, 185–196.Google Scholar
  260. Manski, T. J., Heffner, D. K., Glenn, G. M., Patronas, N. J., Pikus, A. T., Katz, D., Lebovics, R., Sledjeski, K., Choyke, P. L., Zbar, B., Linehan, W. M., & Oldfield, E. H. (1997). Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. Jama, 277, 1461–1466.PubMedCrossRefGoogle Scholar
  261. Marchesa, P., Fazio, V. W., Church, J. M., & McGannon, E. (1997). Adrenal masses in patients with familial adenomatous polyposis. Diseases of the Colon and Rectum, 40, 1023–1028.PubMedCrossRefGoogle Scholar
  262. Marees, T., Moll, A. C., Imhof, S. M., de Boer, M. R., Ringens, P. J., & van Leeuwen, F. E. (2008). Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up. Journal of the National Cancer Institute, 100, 1771–1779.PubMedCrossRefGoogle Scholar
  263. Martignetti, J. A., Tian, L., Li, D., Ramirez, M. C., Camacho-Vanegas, O., Camacho, S. C., Guo, Y., Zand, D. J., Bernstein, A. M., Masur, S. K., Kim, C. E., Otieno, F. G., Hou, C., Abdel-Magid, N., Tweddale, B., Metry, D., Fournet, J. C., Papp, E., McPherson, E. W., Zabel, C., Vaksmann, G., Morisot, C., Keating, B., Sleiman, P. M., Cleveland, J. A., Everman, D. B., Zackai, E., & Hakonarson, H. (2013). Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. American Journal of Human Genetics, 92, 1001–1007.PubMedPubMedCentralCrossRefGoogle Scholar
  264. Martinez-Glez, V., & Lapunzina, P. (2007). Sotos syndrome is associated with leukemia/lymphoma. American journal of medical genetics. Part A, 143A, 1244–1245.Google Scholar
  265. Marx, S. J., Agarwal, S. K., Kester, M. B., Heppner, C., Kim, Y. S., Skarulis, M. C., James, L. A., Goldsmith, P. K., Saggar, S. K., Park, S. Y., Spiegel, A. M., Burns, A. L., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., Emmert-Buck, M. R., Guru, S. C., Manickam, P., Crabtree, J., Erdos, M. R., Collins, F. S., & Chandrasekharappa, S. C. (1999). Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Progress in Hormone Research, 54, 397–438 discussion 438-399.PubMedGoogle Scholar
  266. Mashiah, J., Hadj-Rabia, S., Dompmartin, A., Harroche, A., Laloum-Grynberg, E., Wolter, M., Amoric, J. C., Hamel-Teillac, D., Guero, S., Fraitag, S., & Bodemer, C. (2014). Infantile myofibromatosis: a series of 28 cases. Journal of the American Academy of Dermatology, 71, 264–270.PubMedCrossRefGoogle Scholar
  267. Matyakhina, L., Bei, T. A., McWhinney, S. R., Pasini, B., Cameron, S., Gunawan, B., Stergiopoulos, S. G., Boikos, S., Muchow, M., Dutra, A., Pak, E., Campo, E., Cid, M. C., Gomez, F., Gaillard, R. C., Assie, G., Fuzesi, L., Baysal, B. E., Eng, C., Carney, J. A., & Stratakis, C. A. (2007). Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. The Journal of Clinical Endocrinology and Metabolism, 92, 2938–2943.PubMedCrossRefGoogle Scholar
  268. Mautner, V. F., Lindenau, M., Baser, M. E., Hazim, W., Tatagiba, M., Haase, W., Samii, M., Wais, R., & Pulst, S. M. (1996). The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery, 38, 880–885 discussion 885-886.PubMedCrossRefGoogle Scholar
  269. McNicol, A. M., Young, W.F., Kawashima, A., Komminoth, P., & Tischler, A. S. (2004). In L. R. DeLellis RA, P. U. Heitz, & C. Eng (Eds.), World Health Organization Classification of Tumours, Tumours of Endocrine Organs (pp. 151–155). Lyon: IARC Press.Google Scholar
  270. Md Zin, R., Murch, A., & Charles, A. (2011). Pathology, genetics and cytogenetics of Wilms' tumour. Pathology, 43, 302–312.PubMedCrossRefGoogle Scholar
  271. Megerian, C. A., Haynes, D. S., Poe, D. S., Choo, D. I., Keriakas, T. J., & Glasscock 3rd, M. E. (2002). Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome. Otology & neurotology : official publication of the American Otological Society. American Neurotology Society [and] European Academy of Otology and Neurotology, 23, 378–387.CrossRefGoogle Scholar
  272. Mehta, P. A., Ileri, T., Harris, R. E., Williams, D. A., Mo, J., Smolarek, T., Auerbach, A. D., Kelly, P., & Davies, S. M. (2007). Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatric Blood & Cancer, 48, 668–672.CrossRefGoogle Scholar
  273. Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M., & Gille, J. J. (2004). A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. Familial Cancer, 3, 123–127.PubMedCrossRefGoogle Scholar
  274. Messinger, Y. H., Stewart, D. R., Priest, J. R., Williams, G. M., Harris, A. K., Schultz, K. A., Yang, J., Doros, L., Rosenberg, P. S., Hill, D. A., & Dehner, L. P. (2015). Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer, 121, 276–285.PubMedCrossRefGoogle Scholar
  275. Mester, J. L., Zhou, M., Prescott, N., & Eng, C. (2012). Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology, 79(1187), e1181.Google Scholar
  276. Micol, R., Ben Slama, L., Suarez, F., Le Mignot, L., Beaute, J., Mahlaoui, N., Dubois d'Enghien, C., Lauge, A., Hall, J., Couturier, J., Vallee, L., Delobel, B., Rivier, F., Nguyen, K., Billette de Villemeur, T., Stephan, J. L., Bordigoni, P., Bertrand, Y., Aladjidi, N., Pedespan, J. M., Thomas, C., Pellier, I., Koenig, M., Hermine, O., Picard, C., Moshous, D., Neven, B., Lanternier, F., Blanche, S., Tardieu, M., Debre, M., Fischer, A., Stoppa-Lyonnet, D., & Investigators, C. N. (2011). Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. The Journal of Allergy and Clinical Immunology, 128(382–389), e381.Google Scholar
  277. Miettinen, M., Sarlomo-Rikala, M., & Lasota, J. (1999). Gastrointestinal stromal tumors: recent advances in understanding of their biology. Human Pathology, 30, 1213–1220.PubMedCrossRefGoogle Scholar
  278. Miller, R. W., & Rubinstein, J. H. (1995). Tumors in Rubinstein-Taybi syndrome. American Journal of Medical Genetics, 56, 112–115.PubMedCrossRefGoogle Scholar
  279. Mitter, D., Ullmann, R., Muradyan, A., Klein-Hitpass, L., Kanber, D., Ounap, K., Kaulisch, M., & Lohmann, D. (2011). Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. European journal of human genetics: EJHG, 19, 947–958.PubMedPubMedCentralCrossRefGoogle Scholar
  280. Modigliani, E., Vasen, H. M., Raue, K., Dralle, H., Frilling, A., Gheri, R. G., Brandi, M. L., Limbert, E., Niederle, B., Forgas, L., et al. (1995). Pheochromocytoma in multiple endocrine neoplasia type 2: European study. The Euromen Study Group. Journal of internal medicine, 238, 363–367.CrossRefGoogle Scholar
  281. Morgenstern, P. F., Shah, K., Dunkel, I. J., Reiner, A. S., Khakoo, Y., Rosenblum, M. K., & Gutin, P. (2016). Meningioma after radiotherapy for malignancy. Journal of Clinical Neuroscience, 30, 93–97.PubMedCrossRefGoogle Scholar
  282. Moriyama, T., Metzger, M. L., Wu, G., Nishii, R., Qian, M., Devidas, M., Yang, W., Cheng, C., Cao, X., Quinn, E., Raimondi, S., Gastier-Foster, J. M., Raetz, E., Larsen, E., Martin, P. L., Bowman, W. P., Winick, N., Komada, Y., Wang, S., Edmonson, M., Xu, H., Mardis, E., Fulton, R., Pui, C. H., Mullighan, C., Evans, W. E., Zhang, J., Hunger, S. P., Relling, M. V., Nichols, K. E., Loh, M. L., & Yang, J. J. (2015). Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. The Lancet. Oncology, 16, 1659–1666.PubMedPubMedCentralCrossRefGoogle Scholar
  283. Mork, M.E., You, Y.N., Ying, J., Bannon, S.A., Lynch, P.M., Rodriguez-Bigas, M.A., & Vilar, E. (2015). High prevalence of hereditary cancer syndromes in adolescents and young adults with colorectal cancer. Journal of clinical oncology: official journal of the American Society of Clinical Oncology, 33, 3544–3549.Google Scholar
  284. Mosse, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., Laureys, G., Speleman, F., Kim, C., Hou, C., Hakonarson, H., Torkamani, A., Schork, N. J., Brodeur, G. M., Tonini, G. P., Rappaport, E., Devoto, M., & Maris, J. M. (2008). Identification of ALK as a major familial neuroblastoma predisposition gene. Nature, 455, 930–935.PubMedPubMedCentralCrossRefGoogle Scholar
  285. Muller, U. (2011). Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC). Neurogenetics, 12, 175–181.PubMedCrossRefGoogle Scholar
  286. Mullins, K. J., Rubio, A., Myers, S. P., Korones, D. N., & Pilcher, W. H. (1998). Malignant ependymomas in a patient with Turcot's syndrome: case report and management guidelines. Surgical Neurology, 49, 290–294.PubMedCrossRefGoogle Scholar
  287. Murphy, R. C., Berdon, W. E., Ruzal-Shapiro, C., Hall, E. J., Kornecki, A., Daneman, A., Brunelle, F., & Campbell, J. B. (1999). Malignancies in pediatric patients with ataxia telangiectasia. Pediatric Radiology, 29, 225–230.PubMedCrossRefGoogle Scholar
  288. Nakasu, S., Hirano, A., Shimura, T., & Llena, J. F. (1987). Incidental meningiomas in autopsy study. Surgical Neurology, 27, 319–322.PubMedCrossRefGoogle Scholar
  289. Nance, M. A., Neglia, J. P., Talwar, D., & Berry, S. A. (1990). Neuroblastoma in a patient with Sotos' syndrome. Journal of Medical Genetics, 27, 130–132.PubMedPubMedCentralCrossRefGoogle Scholar
  290. NCI, (2017). Cancer types. from Accessed 28 Jan 2017.
  291. Nelen, M. R., Padberg, G. W., Peeters, E. A., Lin, A. Y., van den Helm, B., Frants, R. R., Coulon, V., Goldstein, A. M., van Reen, M. M., Easton, D. F., Eeles, R. A., Hodgsen, S., Mulvihill, J. J., Murday, V. A., Tucker, M. A., Mariman, E. C., Starink, T. M., Ponder, B. A., Ropers, H. H., Kremer, H., Longy, M., & Eng, C. (1996). Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics, 13, 114–116.PubMedCrossRefGoogle Scholar
  292. Neumann, H. P., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C., Smith, W. M., Munk, R., Manz, T., Glaesker, S., Apel, T. W., Treier, M., Reineke, M., Walz, M. K., Hoang-Vu, C., Brauckhoff, M., Klein-Franke, A., Klose, P., Schmidt, H., Maier-Woelfle, M., Peczkowska, M., Szmigielski, C., Eng, C., & Freiburg-Warsaw-Columbus Pheochromocytoma Study, G. (2002). Germ-line mutations in nonsyndromic pheochromocytoma. The New England Journal of Medicine, 346, 1459–1466.PubMedCrossRefGoogle Scholar
  293. Neumann, H. P., Pawlu, C., Peczkowska, M., Bausch, B., McWhinney, S. R., Muresan, M., Buchta, M., Franke, G., Klisch, J., Bley, T. A., Hoegerle, S., Boedeker, C. C., Opocher, G., Schipper, J., Januszewicz, A., Eng, C., & European-American Paraganglioma Study, G. (2004). Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA, 292, 943–951.PubMedCrossRefGoogle Scholar
  294. Neumann, H. P., Sullivan, M., Winter, A., Malinoc, A., Hoffmann, M. M., Boedeker, C. C., Bertz, H., Walz, M. K., Moeller, L. C., Schmid, K. W., & Eng, C. (2011). Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. The Journal of Clinical Endocrinology and Metabolism, 96, E1279–E1282.PubMedCrossRefGoogle Scholar
  295. Newton Jr., W. A., Gehan, E. A., Webber, B. L., Marsden, H. B., van Unnik, A. J., Hamoudi, A. B., Tsokos, M. G., Shimada, H., Harms, D., Schmidt, D., et al. (1995). Classification of rhabdomyosarcomas and related sarcomas. Pathologic aspects and proposal for a new classification--an Intergroup Rhabdomyosarcoma Study. Cancer, 76, 1073–1085.PubMedCrossRefGoogle Scholar
  296. Ngeow, J., Mester, J., Rybicki, L. A., Ni, Y., Milas, M., & Eng, C. (2011). Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. The Journal of Clinical Endocrinology and Metabolism, 96, E2063–E2071.PubMedPubMedCentralCrossRefGoogle Scholar
  297. Nickels, E. M., Soodalter, J., Churpek, J. E., & Godley, L. A. (2013). Recognizing familial myeloid leukemia in adults. Therapeutic advances in hematology, 4, 254–269.PubMedPubMedCentralCrossRefGoogle Scholar
  298. Niemeyer, C. M., Arico, M., Basso, G., Biondi, A., Cantu Rajnoldi, A., Creutzig, U., Haas, O., Harbott, J., Hasle, H., Kerndrup, G., Locatelli, F., Mann, G., Stollmann-Gibbels, B., van't Veer-Korthof, E. T., van Wering, E., & Zimmermann, M. (1997). Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood, 89, 3534–3543.PubMedGoogle Scholar
  299. Niemeyer, C. M., Kang, M. W., Shin, D. H., Furlan, I., Erlacher, M., Bunin, N. J., Bunda, S., Finklestein, J. Z., Sakamoto, K. M., Gorr, T. A., Mehta, P., Schmid, I., Kropshofer, G., Corbacioglu, S., Lang, P. J., Klein, C., Schlegel, P. G., Heinzmann, A., Schneider, M., Stary, J., van den Heuvel-Eibrink, M. M., Hasle, H., Locatelli, F., Sakai, D., Archambeault, S., Chen, L., Russell, R. C., Sybingco, S. S., Ohh, M., Braun, B. S., Flotho, C., & Loh, M. L. (2010). Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nature Genetics, 42, 794–800.PubMedPubMedCentralCrossRefGoogle Scholar
  300. Nikolaou, V., Stratigos, A. J., & Tsao, H. (2012). Hereditary nonmelanoma skin cancer. Seminars in Cutaneous Medicine and Surgery, 31, 204–210.PubMedPubMedCentralCrossRefGoogle Scholar
  301. Noris, P., Favier, R., Alessi, M. C., Geddis, A. E., Kunishima, S., Heller, P. G., Giordano, P., Niederhoffer, K. Y., Bussel, J. B., Podda, G. M., Vianelli, N., Kersseboom, R., Pecci, A., Gnan, C., Marconi, C., Auvrignon, A., Cohen, W., Yu, J. C., Iguchi, A., Miller Imahiyerobo, A., Boehlen, F., Ghalloussi, D., De Rocco, D., Magini, P., Civaschi, E., Biino, G., Seri, M., Savoia, A., & Balduini, C. L. (2013). ANKRD26-related thrombocytopenia and myeloid malignancies. Blood, 122, 1987–1989.PubMedCrossRefGoogle Scholar
  302. Nose, V. (2008). Familial non-medullary thyroid carcinoma: an update. Endocrine Pathology, 19, 226–240.PubMedCrossRefGoogle Scholar
  303. Offit, K., Levran, O., Mullaney, B., Mah, K., Nafa, K., Batish, S. D., Diotti, R., Schneider, H., Deffenbaugh, A., Scholl, T., Proud, V. K., Robson, M., Norton, L., Ellis, N., Hanenberg, H., & Auerbach, A. D. (2003). Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Journal of the National Cancer Institute, 95, 1548–1551.PubMedCrossRefGoogle Scholar
  304. Ognjanovic, S., Linabery, A. M., Charbonneau, B., & Ross, J. A. (2009). Trends in childhood rhabdomyosarcoma incidence and survival in the United States, 1975-2005. Cancer, 115, 4218–4226.PubMedPubMedCentralCrossRefGoogle Scholar
  305. Ognjanovic, S., Olivier, M., Bergemann, T. L., & Hainaut, P. (2012). Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. Cancer, 118, 1387–1396.PubMedCrossRefGoogle Scholar
  306. Ostergaard, J. R., Sunde, L., & Okkels, H. (2005). Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. American journal of medical genetics. Part A, 139A, 96–105 discussion 196.PubMedCrossRefGoogle Scholar
  307. Ostergaard, P., Simpson, M. A., Connell, F. C., Steward, C. G., Brice, G., Woollard, W. J., Dafou, D., Kilo, T., Smithson, S., Lunt, P., Murday, V. A., Hodgson, S., Keenan, R., Pilz, D. T., Martinez-Corral, I., Makinen, T., Mortimer, P. S., Jeffery, S., Trembath, R. C., & Mansour, S. (2011). Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics, 43, 929–931.PubMedCrossRefGoogle Scholar
  308. Ottaviani, G., & Jaffe, N. (2009). The epidemiology of osteosarcoma. Cancer Treatment and Research, 152, 3–13.PubMedCrossRefGoogle Scholar
  309. Pabst, T., Eyholzer, M., Haefliger, S., Schardt, J., & Mueller, B. U. (2008). Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 26, 5088–5093.CrossRefGoogle Scholar
  310. Pacak, K., Jochmanova, I., Prodanov, T., Yang, C., Merino, M. J., Fojo, T., Prchal, J. T., Tischler, A. S., Lechan, R. M., & Zhuang, Z. (2013). New syndrome of paraganglioma and somatostatinoma associated with polycythemia. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 31, 1690–1698.CrossRefGoogle Scholar
  311. Padalino, M. A., Reffo, E., Cerutti, A., Favero, V., Biffanti, R., Vida, V., Stellin, G., & Milanesi, O. (2014). Medical and surgical management of primary cardiac tumours in infants and children. Cardiology in the Young, 24, 268–274.PubMedCrossRefGoogle Scholar
  312. Pappo, A. S. (2003). Melanoma in children and adolescents. European Journal of Cancer, 39, 2651–2661.PubMedCrossRefGoogle Scholar
  313. Paraf, F., Jothy, S., & Van Meir, E. G. (1997). Brain tumor-polyposis syndrome: two genetic diseases? Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 15, 2744–2758.CrossRefGoogle Scholar
  314. Park, J. R., Eggert, A., & Caron, H. (2008). Neuroblastoma: biology, prognosis, and treatment. Pediatric Clinics of North America, 55, 97–120 x.PubMedCrossRefGoogle Scholar
  315. Park, S. H., Pepkowitz, S. H., Kerfoot, C., De Rosa, M. J., Poukens, V., Wienecke, R., DeClue, J. E., & Vinters, H. V. (1997). Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathologica, 94, 180–186.PubMedCrossRefGoogle Scholar
  316. Parry, D. M., Eldridge, R., Kaiser-Kupfer, M. I., Bouzas, E. A., Pikus, A., & Patronas, N. (1994). Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. American Journal of Medical Genetics, 52, 450–461.PubMedCrossRefGoogle Scholar
  317. Parsa, A. T., Chi, J. H., Acosta Jr., F. L., Ames, C. P., & McCormick, P. C. (2005). Intramedullary spinal cord tumors: molecular insights and surgical innovation. Clinical Neurosurgery, 52, 76–84.PubMedGoogle Scholar
  318. Parsa, C. F., Hoyt, C. S., Lesser, R. L., Weinstein, J. M., Strother, C. M., Muci-Mendoza, R., Ramella, M., Manor, R. S., Fletcher, W. A., Repka, M. X., Garrity, J. A., Ebner, R. N., Monteiro, M. L., McFadzean, R. M., Rubtsova, I. V., & Hoyt, W. F. (2001). Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging. Archives of Ophthalmology, 119, 516–529.PubMedCrossRefGoogle Scholar
  319. Parsons, D. W., Roy, A., Yang, Y., Wang, T., Scollon, S., Bergstrom, K., Kerstein, R. A., Gutierrez, S., Petersen, A. K., Bavle, A., Lin, F. Y., Lopez-Terrada, D. H., Monzon, F. A., Hicks, M. J., Eldin, K. W., Quintanilla, N. M., Adesina, A. M., Mohila, C. A., Whitehead, W., Jea, A., Vasudevan, S. A., Nuchtern, J. G., Ramamurthy, U., McGuire, A. L., Hilsenbeck, S. G., Reid, J. G., Muzny, D. M., Wheeler, D. A., Berg, S. L., Chintagumpala, M. M., Eng, C. M., Gibbs, R. A., & Plon, S. E. (2016). Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors. JAMA Oncology. doi: 10.1001/jamaoncol.2015.5699.PubMedGoogle Scholar
  320. Pasmant, E., Laurendeau, I., Heron, D., Vidaud, M., Vidaud, D., & Bieche, I. (2007). Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Research, 67, 3963–3969.PubMedCrossRefGoogle Scholar
  321. Pastorczak, A., Szczepanski, T., Mlynarski, W., & International Berlin-Frankfurt-Munster, A.L.L.h.g.v.w.g. (2016). Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. European Journal of Medical Genetics, 59, 126–132.PubMedCrossRefGoogle Scholar
  322. Patil, S., & Chamberlain, R. S. (2012). Neoplasms associated with germline and somatic NF1 gene mutations. The Oncologist, 17, 101–116.PubMedPubMedCentralCrossRefGoogle Scholar
  323. Pearson, A. D., Craft, A. W., Ratcliffe, J. M., Birch, J. M., Morris-Jones, P., & Roberts, D. F. (1982). Two families with the Li-Fraumeni cancer family syndrome. Journal of Medical Genetics, 19, 362–365.PubMedPubMedCentralCrossRefGoogle Scholar
  324. Peczkowska, M., Kowalska, A., Sygut, J., Waligorski, D., Malinoc, A., Janaszek-Sitkowska, H., Prejbisz, A., Januszewicz, A., & Neumann, H. P. (2013). Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical Endocrinology, 79, 817–823.PubMedCrossRefGoogle Scholar
  325. Pelizzo, M. R., Boschin, I. M., Bernante, P., Toniato, A., Piotto, A., Pagetta, C., Nibale, O., Rampin, L., Muzzio, P. C., & Rubello, D. (2007). Natural history, diagnosis, treatment and outcome of medullary thyroid cancer: 37 years experience on 157 patients. European Journal of Surgical Oncology, 33, 493–497.PubMedCrossRefGoogle Scholar
  326. Pencalet, P., Sainte-Rose, C., Lellouch-Tubiana, A., Kalifa, C., Brunelle, F., Sgouros, S., Meyer, P., Cinalli, G., Zerah, M., Pierre-Kahn, A., & Renier, D. (1998). Papillomas and carcinomas of the choroid plexus in children. Journal of Neurosurgery, 88, 521–528.PubMedCrossRefGoogle Scholar
  327. Perlman, E. J. (2010). Pediatric Renal Cell Carcinoma. Surgical Pathology Clinic, 3, 641–651.CrossRefGoogle Scholar
  328. Perry, A., Giannini, C., Raghavan, R., Scheithauer, B. W., Banerjee, R., Margraf, L., Bowers, D. C., Lytle, R. A., Newsham, I. F., & Gutmann, D. H. (2001). Aggressive phenotypic and genotypic features in pediatric and NF2-associated meningiomas: a clinicopathologic study of 53 cases. Journal of Neuropathology and Experimental Neurology, 60, 994–1003.PubMedCrossRefGoogle Scholar
  329. Pilarski, R. (2009). Cowden syndrome: a critical review of the clinical literature. Journal of Genetic Counseling, 18, 13–27.PubMedCrossRefGoogle Scholar
  330. Pilarski, R., Stephens, J. A., Noss, R., Fisher, J. L., & Prior, T. W. (2011). Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Journal of Medical Genetics, 48, 505–512.PubMedCrossRefGoogle Scholar
  331. Piotrowski, A., Xie, J., Liu, Y. F., Poplawski, A. B., Gomes, A. R., Madanecki, P., Fu, C., Crowley, M. R., Crossman, D. K., Armstrong, L., Babovic-Vuksanovic, D., Bergner, A., Blakeley, J. O., Blumenthal, A. L., Daniels, M. S., Feit, H., Gardner, K., Hurst, S., Kobelka, C., Lee, C., Nagy, R., Rauen, K. A., Slopis, J. M., Suwannarat, P., Westman, J. A., Zanko, A., Korf, B. R., & Messiaen, L. M. (2014). Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nature Genetics, 46, 182–187.PubMedCrossRefGoogle Scholar
  332. Plon, S. E., & Malkin, D. (2016). Childhood Cancer and Heredity. In P. A. Pizzo & D. G. Poplack (Eds.), Principles and Practice of Pediatric Oncology (7th ed.). Philadelphia: Wolters Kluwer.Google Scholar
  333. Plotkin, S. R., Blakeley, J. O., Evans, D. G., Hanemann, C. O., Hulsebos, T. J., Hunter-Schaedle, K., Kalpana, G. V., Korf, B., Messiaen, L., Papi, L., Ratner, N., Sherman, L. S., Smith, M. J., Stemmer-Rachamimov, A. O., Vitte, J., & Giovannini, M. (2013). Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. American journal of medical genetics. Part A, 161A, 405–416.PubMedCrossRefGoogle Scholar
  334. Plotkin, S. R., O'Donnell, C. C., Curry, W. T., Bove, C. M., MacCollin, M., & Nunes, F. P. (2011). Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients. Journal of Neurosurgery. Spine, 14, 543–547.PubMedCrossRefGoogle Scholar
  335. Poley, J. W., Wagner, A., Hoogmans, M. M., Menko, F. H., Tops, C., Kros, J. M., Reddingius, R. E., Meijers-Heijboer, H., Kuipers, E. J., Dinjens, W. N., & Rotterdam Initiative on Gastrointestinal Hereditary Tumors. (2007). Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer, 109, 2349–2356.PubMedCrossRefGoogle Scholar
  336. Ponti, G., Losi, L., Pellacani, G., Rossi, G. B., Presutti, L., Mattioli, F., Villari, D., Wannesson, L., Alicandri Ciufelli, M., Izzo, P., De Rosa, M., Marone, P., & Seidenari, S. (2008). Wnt pathway, angiogenetic and hormonal markers in sporadic and familial adenomatous polyposis-associated juvenile nasopharyngeal angiofibromas (JNA). Applied immunohistochemistry & molecular morphology : AIMM / official publication of the Society for Applied Immunohistochemistry, 16, 173–178.CrossRefGoogle Scholar
  337. Porta, G., Maserati, E., Mattarucchi, E., Minelli, A., Pressato, B., Valli, R., Zecca, M., Bernardo, M. E., Lo Curto, F., Locatelli, F., Danesino, C., & Pasquali, F. (2007). Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia, 21, 1833–1835.PubMedCrossRefGoogle Scholar
  338. Powell, B. C., Jiang, L., Muzny, D. M., Trevino, L. R., Dreyer, Z. E., Strong, L. C., Wheeler, D. A., Gibbs, R. A., & Plon, S. E. (2013). Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatric Blood & Cancer, 60, E1–E3.CrossRefGoogle Scholar
  339. Priest, J. R., Williams, G. M., Manera, R., Jenkinson, H., Brundler, M. A., Davis, S., Murray, T. G., Galliani, C. A., & Dehner, L. P. (2011). Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry. The British Journal of Ophthalmology, 95, 1001–1005.PubMedCrossRefGoogle Scholar
  340. Puntervoll, H. E., Yang, X. R., Vetti, H. H., Bachmann, I. M., Avril, M. F., Benfodda, M., Catricala, C., Dalle, S., Duval-Modeste, A. B., Ghiorzo, P., Grammatico, P., Harland, M., Hayward, N. K., Hu, H. H., Jouary, T., Martin-Denavit, T., Ozola, A., Palmer, J. M., Pastorino, L., Pjanova, D., Soufir, N., Steine, S. J., Stratigos, A. J., Thomas, L., Tinat, J., Tsao, H., Veinalde, R., Tucker, M. A., Bressac-de Paillerets, B., Newton-Bishop, J. A., Goldstein, A. M., Akslen, L. A., & Molven, A. (2013). Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. Journal of Medical Genetics, 50, 264–270.PubMedPubMedCentralCrossRefGoogle Scholar
  341. Qualman, S. J., Coffin, C. M., Newton, W. A., Hojo, H., Triche, T. J., Parham, D. M., & Crist, W. M. (1998). Intergroup Rhabdomyosarcoma Study: update for pathologists. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 1, 550–561.CrossRefGoogle Scholar
  342. Quayle, F. J., Fialkowski, E. A., Benveniste, R., & Moley, J. F. (2007). Pheochromocytoma penetrance varies by RET mutation in MEN 2A. Surgery, 142, 800–805 discussion 805 e801.PubMedCrossRefGoogle Scholar
  343. Quirk, J. T., & Natarajan, N. (2005). Ovarian cancer incidence in the United States, 1992-1999. Gynecologic Oncology, 97, 519–523.PubMedCrossRefGoogle Scholar
  344. Ramasubramanian, A., Correa, Z. M., Augsburger, J. J., Sisk, R. A., & Plager, D. A. (2013). Medulloepithelioma in DICER1 syndrome treated with resection. Eye, 27, 896–897.PubMedPubMedCentralCrossRefGoogle Scholar
  345. Ramos, P., Karnezis, A. N., Craig, D. W., Sekulic, A., Russell, M. L., Hendricks, W. P., Corneveaux, J. J., Barrett, M. T., Shumansky, K., Yang, Y., Shah, S. P., Prentice, L. M., Marra, M. A., Kiefer, J., Zismann, V. L., McEachron, T. A., Salhia, B., Prat, J., D'Angelo, E., Clarke, B. A., Pressey, J. G., Farley, J. H., Anthony, S. P., Roden, R. B., Cunliffe, H. E., Huntsman, D. G., & Trent, J. M. (2014a). Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nature Genetics, 46, 427–429.PubMedPubMedCentralCrossRefGoogle Scholar
  346. Ramos, P., Karnezis, A. N., Hendricks, W. P., Wang, Y., Tembe, W., Zismann, V. L., Legendre, C., Liang, W. S., Russell, M. L., Craig, D. W., Farley, J. H., Monk, B. J., Anthony, S. P., Sekulic, A., Cunliffe, H. E., Huntsman, D. G., & Trent, J. M. (2014b). Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Rare Diseases, 2, e967148.PubMedPubMedCentralCrossRefGoogle Scholar
  347. Randerson-Moor, J. A., Harland, M., Williams, S., Cuthbert-Heavens, D., Sheridan, E., Aveyard, J., Sibley, K., Whitaker, L., Knowles, M., Bishop, J. N., & Bishop, D. T. (2001). A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Human Molecular Genetics, 10, 55–62.PubMedCrossRefGoogle Scholar
  348. Rapley, E. A., Barfoot, R., Bonaiti-Pellie, C., Chompret, A., Foulkes, W., Perusinghe, N., Reeve, A., Royer-Pokora, B., Schumacher, V., Shelling, A., Skeen, J., de Tourreil, S., Weirich, A., Pritchard-Jones, K., Stratton, M. R., & Rahman, N. (2000). Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. British Journal of Cancer, 83, 177–183.PubMedPubMedCentralCrossRefGoogle Scholar
  349. Raymond, V. M., Everett, J. N., Furtado, L. V., Gustafson, S. L., Jungbluth, C. R., Gruber, S. B., Hammer, G. D., Stoffel, E. M., Greenson, J. K., Giordano, T. J., & Else, T. (2013). Adrenocortical carcinoma is a lynch syndrome-associated cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 31, 3012–3018.CrossRefGoogle Scholar
  350. Read, J., Wadt, K. A., & Hayward, N. K. (2016). Melanoma genetics. Journal of Medical Genetics, 53, 1–14.PubMedCrossRefGoogle Scholar
  351. Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., Wurm, M., Batish, S. D., Lach, F. P., Yetgin, S., Neitzel, H., Ariffin, H., Tischkowitz, M., Mathew, C. G., Auerbach, A. D., & Rahman, N. (2007). Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nature Genetics, 39, 162–164.PubMedCrossRefGoogle Scholar
  352. Reitamo, J. J., Hayry, P., Nykyri, E., & Saxen, E. (1982). The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. American Journal of Clinical Pathology, 77, 665–673.PubMedCrossRefGoogle Scholar
  353. Renneville, A., Mialou, V., Philippe, N., Kagialis-Girard, S., Biggio, V., Zabot, M. T., Thomas, X., Bertrand, Y., & Preudhomme, C. (2009). Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia, 23, 804–806.PubMedCrossRefGoogle Scholar
  354. Ribeiro, R. C., Sandrini, F., Figueiredo, B., Zambetti, G. P., Michalkiewicz, E., Lafferty, A. R., DeLacerda, L., Rabin, M., Cadwell, C., Sampaio, G., Cat, I., Stratakis, C. A., & Sandrini, R. (2001). An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proceedings of the National Academy of Sciences of the United States of America, 98, 9330–9335.PubMedPubMedCentralCrossRefGoogle Scholar
  355. Rich, T. A. (2008). Risk Assessment and genetic counseling for multiple endocrine neoplasia type 1 (MEN1). Community Oncology, 5, 502–510.CrossRefGoogle Scholar
  356. Richard, S., David, P., Marsot-Dupuch, K., Giraud, S., Beroud, C., & Resche, F. (2000). Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease. Neurosurgical Review, 23, 1–22 discussion 23-24.PubMedCrossRefGoogle Scholar
  357. Richter, S., Vandezande, K., Chen, N., Zhang, K., Sutherland, J., Anderson, J., Han, L., Panton, R., Branco, P., & Gallie, B. (2003). Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. American Journal of Human Genetics, 72, 253–269.PubMedCrossRefGoogle Scholar
  358. Ricketts, C. J., Shuch, B., Vocke, C. D., Metwalli, A. R., Bratslavsky, G., Middelton, L., Yang, Y., Wei, M. H., Pautler, S. E., Peterson, J., Stolle, C. A., Zbar, B., Merino, M. J., Schmidt, L. S., Pinto, P. A., Srinivasan, R., Pacak, K., & Linehan, W. M. (2012). Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. The Journal of Urology, 188, 2063–2071.PubMedCrossRefGoogle Scholar
  359. Rieber, J., Remke, M., Hartmann, C., Korshunov, A., Burkhardt, B., Sturm, D., Mechtersheimer, G., Wittmann, A., Greil, J., Blattmann, C., Witt, O., Behnisch, W., Halatsch, M. E., Orakcioglu, B., von Deimling, A., Lichter, P., Kulozik, A., & Pfister, S. (2009). Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome. Genes, Chromosomes & Cancer, 48, 558–568.CrossRefGoogle Scholar
  360. Ries, L.A.G., SEER Program (National Cancer Institute (U.S.)) (1999). Cancer incidence and survival among children and adolescents : United States SEER program 1975–1995 /[edited by Lynn A. Gloecker Ries … et al.]. National Cancer Institute, SEER Program, Bethesda.Google Scholar
  361. Rodriguez-Galindo, C., Figueiredo, B. C., Zambetti, G. P., & Ribeiro, R. C. (2005). Biology, clinical characteristics, and management of adrenocortical tumors in children. Pediatric Blood & Cancer, 45, 265–273.CrossRefGoogle Scholar
  362. Rodriguez, J. M., Balsalobre, M., Ponce, J. L., Rios, A., Torregrosa, N. M., Tebar, J., & Parrilla, P. (2008). Pheochromocytoma in MEN 2A syndrome. Study of 54 patients. World Journal of Surgery, 32, 2520–2526.PubMedCrossRefGoogle Scholar
  363. Roelfsema, J. H., & Peters, D. J. (2007). Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Reviews in Molecular Medicine, 9, 1–16.PubMedCrossRefGoogle Scholar
  364. Rogers, H. W., Weinstock, M. A., Harris, A. R., Hinckley, M. R., Feldman, S. R., Fleischer, A. B., & Coldiron, B. M. (2010). Incidence estimate of nonmelanoma skin cancer in the United States, 2006. Archives of Dermatology, 146, 283–287.PubMedCrossRefGoogle Scholar
  365. Romei, C., Tacito, A., Molinaro, E., Agate, L., Bottici, V., Viola, D., Matrone, A., Biagini, A., Casella, F., Ciampi, R., Materazzi, G., Miccoli, P., Torregrossa, L., Ugolini, C., Basolo, F., Vitti, P., & Elisei, R. (2015). Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? Clinical Endocrinology, 82, 892–899.PubMedCrossRefGoogle Scholar
  366. Rosemberg, S., & Fujiwara, D. (2005). Epidemiology of pediatric tumors of the nervous system according to the WHO 2000 classification: a report of 1,195 cases from a single institution. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 21, 940–944.CrossRefGoogle Scholar
  367. Rosser, T., & Packer, R. J. (2002a). Intracranial neoplasms in children with neurofibromatosis 1. Journal of Child Neurology, 17, 630–637 discussion 646-651.PubMedCrossRefGoogle Scholar
  368. Rosser, T., & Packer, R. J. (2002b). Neurofibromas in children with neurofibromatosis 1. Journal of Child Neurology, 17, 585–591 discussion 602-584, 646-551.PubMedCrossRefGoogle Scholar
  369. Roth, J., Roach, E. S., Bartels, U., Jozwiak, S., Koenig, M. K., Weiner, H. L., Franz, D. N., & Wang, H. Z. (2013). Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatric Neurology, 49, 439–444.PubMedCrossRefGoogle Scholar
  370. Roy, P. K., Venzon, D. J., Shojamanesh, H., Abou-Saif, A., Peghini, P., Doppman, J. L., Gibril, F., & Jensen, R. T. (2000). Zollinger-Ellison syndrome. Clinical presentation in 261 patients. Medicine, 79, 379–411.PubMedCrossRefGoogle Scholar
  371. Ruggieri, M., Gabriele, A. L., Polizzi, A., Salpietro, V., Nicita, F., Pavone, P., Platania, N., Milone, P., Distefano, A., Privitera, G., Belfiore, G., Granata, F., Caltabiano, R., Albanese, V., Pavone, L., & Quattrone, A. (2013). Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics, 14, 89–98.PubMedCrossRefGoogle Scholar
  372. Rushing, E. J., Olsen, C., Mena, H., Rueda, M. E., Lee, Y. S., Keating, R. F., Packer, R. J., & Santi, M. (2005). Central nervous system meningiomas in the first two decades of life: a clinicopathological analysis of 87 patients. Journal of Neurosurgery, 103, 489–495.PubMedGoogle Scholar
  373. Rydholm, A., & Berg, N. O. (1983). Size, site and clinical incidence of lipoma. Factors in the differential diagnosis of lipoma and sarcoma. Acta Orthopaedica Scandinavica, 54, 929–934.PubMedCrossRefGoogle Scholar
  374. Sabbaghian, N., Hamel, N., Srivastava, A., Albrecht, S., Priest, J. R., & Foulkes, W. D. (2012). Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. Journal of Medical Genetics, 49, 417–419.PubMedCrossRefGoogle Scholar
  375. Sahakitrungruang, T., Srichomthong, C., Pornkunwilai, S., Amornfa, J., Shuangshoti, S., Kulawonganunchai, S., Suphapeetiporn, K., & Shotelersuk, V. (2014). Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease. The Journal of Clinical Endocrinology and Metabolism, 99, E1487–E1492.PubMedCrossRefGoogle Scholar
  376. Sandberg, A. A., & Bridge, J. A. (2002). Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. gastrointestinal stromal tumors. Cancer Genetics and Cytogenetics, 135, 1–22.PubMedCrossRefGoogle Scholar
  377. Savla, J., Chen, T. T., Schneider, N. R., Timmons, C. F., Delattre, O., & Tomlinson, G. E. (2000). Mutations of the hSNF5/INI1 gene in renal rhabdoid tumors with second primary brain tumors. Journal of the National Cancer Institute, 92, 648–650.PubMedCrossRefGoogle Scholar
  378. Schiffman, J. D., Chun, N., Fisher, P. G., Dahl, G. V., Ford, J. M., & Eggerding, F. A. (2008). Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family. Pediatric Blood & Cancer, 50, 914–916.CrossRefGoogle Scholar
  379. Schneid, H., Vazquez, M. P., Vacher, C., Gourmelen, M., Cabrol, S., & Le Bouc, Y. (1997). The Beckwith-Wiedemann syndrome phenotype and the risk of cancer. Medical and Pediatric Oncology, 28, 411–415.PubMedCrossRefGoogle Scholar
  380. Schneider, K.W., Jasperson, Kory (2015). Unique genetic counseling considerations in the pediatric oncology setting. Current Genetics Medical Report. doi: 10.1007/s40142-015-0064-z
  381. Schniederjan, M. J., Shehata, B., Brat, D. J., Esiashvili, N., & Janss, A. J. (2009). De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system. Pediatric Blood & Cancer, 53, 1352–1354.CrossRefGoogle Scholar
  382. Schultz, K. A., Pacheco, M. C., Yang, J., Williams, G. M., Messinger, Y., Hill, D. A., Dehner, L. P., & Priest, J. R. (2011). Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. Gynecologic Oncology, 122, 246–250.PubMedPubMedCentralCrossRefGoogle Scholar
  383. Schultz, K. A., Yang, J., Doros, L., Williams, G. M., Harris, A., Stewart, D. R., Messinger, Y., Field, A., Dehner, L. P., & Hill, D. A. (2014). pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathology case reviews, 19, 90–100.PubMedPubMedCentralCrossRefGoogle Scholar
  384. Scully, R. E. (1970). Gonadoblastoma. A review of 74 cases. Cancer, 25, 1340–1356.PubMedCrossRefGoogle Scholar
  385. SEER Program National Cancer Institute (2013). Age distribution at diagnosis and death, CSR 1975-2013.Google Scholar
  386. Segers, H., Kersseboom, R., Alders, M., Pieters, R., Wagner, A., & van den Heuvel-Eibrink, M. M. (2012). Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients. European Journal of Cancer, 48, 3249–3256.PubMedCrossRefGoogle Scholar
  387. Seif, A. E. (2011). Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genetics, 204, 227–244.PubMedCrossRefGoogle Scholar
  388. Septer, S., Slowik, V., Morgan, R., Dai, H., & Attard, T. (2013). Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hered Cancer Clinical Practice, 11, 13.CrossRefGoogle Scholar
  389. Serra, A., Eirich, K., Winkler, A. K., Mrasek, K., Gohring, G., Barbi, G., Cario, H., Schlegelberger, B., Pokora, B., Liehr, T., Leriche, C., Henne-Bruns, D., Barth, T. F., & Schindler, D. (2012). Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia. Mol Syndromol, 3, 120–130.PubMedPubMedCentralCrossRefGoogle Scholar
  390. Serrano-Gonzalez, M., Shay, S., Austin, J., Maceri, D. R., & Pitukcheewanont, P. (2016). A germline mutation of HRPT2/CDC73 (70 G > T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. Journal of pediatric endocrinology & metabolism : JPEM, 29, 1005–1012.CrossRefGoogle Scholar
  391. Service, F. J., McMahon, M. M., O'Brien, P. C., & Ballard, D. J. (1991). Functioning insulinoma--incidence, recurrence, and long-term survival of patients: a 60-year study. Mayo Clinic Proceedings, 66, 711–719.PubMedCrossRefGoogle Scholar
  392. Shah, S., Schrader, K. A., Waanders, E., Timms, A. E., Vijai, J., Miething, C., Wechsler, J., Yang, J., Hayes, J., Klein, R. J., Zhang, J., Wei, L., Wu, G., Rusch, M., Nagahawatte, P., Ma, J., Chen, S. C., Song, G., Cheng, J., Meyers, P., Bhojwani, D., Jhanwar, S., Maslak, P., Fleisher, M., Littman, J., Offit, L., Rau-Murthy, R., Fleischut, M. H., Corines, M., Murali, R., Gao, X., Manschreck, C., Kitzing, T., Murty, V. V., Raimondi, S. C., Kuiper, R. P., Simons, A., Schiffman, J. D., Onel, K., Plon, S. E., Wheeler, D. A., Ritter, D., Ziegler, D. S., Tucker, K., Sutton, R., Chenevix-Trench, G., Li, J., Huntsman, D. G., Hansford, S., Senz, J., Walsh, T., Lee, M., Hahn, C. N., Roberts, K. G., King, M. C., Lo, S. M., Levine, R. L., Viale, A., Socci, N. D., Nathanson, K. L., Scott, H. S., Daly, M., Lipkin, S. M., Lowe, S. W., Downing, J. R., Altshuler, D., Sandlund, J. T., Horwitz, M. S., Mullighan, C. G., & Offit, K. (2013). A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nature Genetics, 45, 1226–1231.PubMedPubMedCentralCrossRefGoogle Scholar
  393. Shanley, S., Ratcliffe, J., Hockey, A., Haan, E., Oley, C., Ravine, D., Martin, N., Wicking, C., & Chenevix-Trench, G. (1994). Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. American Journal of Medical Genetics, 50, 282–290.PubMedCrossRefGoogle Scholar
  394. Sharretts, J. M., & Simonds, W. F. (2010). Clinical and molecular genetics of parathyroid neoplasms. Best Practice & Research. Clinical Endocrinology & Metabolism, 24, 491–502.CrossRefGoogle Scholar
  395. Shuch, B., Hofmann, J. N., Merino, M. J., Nix, J. W., Vourganti, S., Linehan, W. M., Schwartz, K., Ruterbusch, J. J., Colt, J. S., Purdue, M. P., & Chow, W. H. (2014a). Pathologic validation of renal cell carcinoma histology in the Surveillance, Epidemiology, and End Results program. Urologic Oncology, 32, 23.e29–23.e13.CrossRefGoogle Scholar
  396. Shuch, B., Vourganti, S., Ricketts, C. J., Middleton, L., Peterson, J., Merino, M. J., Metwalli, A. R., Srinivasan, R., & Linehan, W. M. (2014b). Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32, 431–437.CrossRefGoogle Scholar
  397. Skinner, M. A., DeBenedetti, M. K., Moley, J. F., Norton, J. A., & Wells Jr., S. A. (1996). Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. Journal of Pediatric Surgery, 31, 177–181 c discussion 181-172.PubMedCrossRefGoogle Scholar
  398. Slade, I., Bacchelli, C., Davies, H., Murray, A., Abbaszadeh, F., Hanks, S., Barfoot, R., Burke, A., Chisholm, J., Hewitt, M., Jenkinson, H., King, D., Morland, B., Pizer, B., Prescott, K., Saggar, A., Side, L., Traunecker, H., Vaidya, S., Ward, P., Futreal, P. A., Vujanic, G., Nicholson, A. G., Sebire, N., Turnbull, C., Priest, J. R., Pritchard-Jones, K., Houlston, R., Stiller, C., Stratton, M. R., Douglas, J., & Rahman, N. (2011). DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. Journal of Medical Genetics, 48, 273–278.PubMedCrossRefGoogle Scholar
  399. Smith, A. B., Smirniotopoulos, J. G., & Horkanyne-Szakaly, I. (2013). From the radiologic pathology archives: intraventricular neoplasms: radiologic-pathologic correlation. Radiographics : a review publication of the Radiological Society of North America, Inc, 33, 21–43.CrossRefGoogle Scholar
  400. Smith, A. C., Squire, J. A., Thorner, P., Zielenska, M., Shuman, C., Grant, R., Chitayat, D., Nishikawa, J. L., & Weksberg, R. (2001). Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 4, 550–558.CrossRefGoogle Scholar
  401. Smith, M. J. (2015). Germline and somatic mutations in meningiomas. Cancer Genetics, 208, 107–114.PubMedCrossRefGoogle Scholar
  402. Smith, M. J., Beetz, C., Williams, S. G., Bhaskar, S. S., O'Sullivan, J., Anderson, B., Daly, S. B., Urquhart, J. E., Bholah, Z., Oudit, D., Cheesman, E., Kelsey, A., McCabe, M. G., Newman, W. G., & Evans, D. G. (2014). Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32, 4155–4161.CrossRefGoogle Scholar
  403. Smith, M. J., Higgs, J. E., Bowers, N. L., Halliday, D., Paterson, J., Gillespie, J., Huson, S. M., Freeman, S. R., Lloyd, S., Rutherford, S. A., King, A. T., Wallace, A. J., Ramsden, R. T., & Evans, D. G. (2011). Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset. Journal of Medical Genetics, 48, 261–265.PubMedCrossRefGoogle Scholar
  404. Smith, M. J., Wallace, A. J., Bowers, N. L., Rustad, C. F., Woods, C. G., Leschziner, G. D., Ferner, R. E., & Evans, D. G. (2012). Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics, 13, 141–145.PubMedCrossRefGoogle Scholar
  405. Smith, M. L., Cavenagh, J. D., Lister, T. A., & Fitzgibbon, J. (2004). Mutation of CEBPA in familial acute myeloid leukemia. The New England Journal of Medicine, 351, 2403–2407.PubMedCrossRefGoogle Scholar
  406. Smith, T. G., Clark, S. K., Katz, D. E., Reznek, R. H., & Phillips, R. K. (2000). Adrenal masses are associated with familial adenomatous polyposis. Diseases of the Colon and Rectum, 43, 1739–1742.PubMedCrossRefGoogle Scholar
  407. Smyth, I., Narang, M. A., Evans, T., Heimann, C., Nakamura, Y., Chenevix-Trench, G., Pietsch, T., Wicking, C., & Wainwright, B. J. (1999). Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. Human Molecular Genetics, 8, 291–297.PubMedCrossRefGoogle Scholar
  408. Smythe, J. F., Dyck, J. D., Smallhorn, J. F., & Freedom, R. M. (1990). Natural history of cardiac rhabdomyoma in infancy and childhood. The American Journal of Cardiology, 66, 1247–1249.PubMedCrossRefGoogle Scholar
  409. Sobota, A., Pena, M., Santi, M., & Ali Ahmed, A. (2007). Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome. International Journal of Surgical Pathology, 15, 303–306.PubMedCrossRefGoogle Scholar
  410. Society, A. C. (2003). Chapter 85. In Neoplasms of the Eye, Cancer Medicine. BC Decker Inc, Hamilton: Ontario.Google Scholar
  411. Soga, J., & Yakuwa, Y. (1998). The gastrinoma/Zollinger-Ellison syndrome: statistical evaluation of a Japanese series of 359 cases. Journal of Hepato-Biliary-Pancreatic Surgery, 5, 77–85.PubMedCrossRefGoogle Scholar
  412. Song, D. H., Jeong, S. M., Park, J. T., Yun, G. W., Kim, B. K., & Lee, J. S. (2014). Large cell calcifying sertoli cell tumor of the testis: a case study and review of the literature. Korean journal of pathology, 48, 50–53.PubMedPubMedCentralCrossRefGoogle Scholar
  413. Song, W. J., Sullivan, M. G., Legare, R. D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I. C., Haworth, C., Hock, R., Loh, M., Felix, C., Roy, D. C., Busque, L., Kurnit, D., Willman, C., Gewirtz, A. M., Speck, N. A., Bushweller, J. H., Li, F. P., Gardiner, K., Poncz, M., Maris, J. M., & Gilliland, D. G. (1999). Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genetics, 23, 166–175.PubMedCrossRefGoogle Scholar
  414. Sora, S., Ueki, K., Saito, N., Kawahara, N., Shitara, N., & Kirino, T. (2001). Incidence of von Hippel-Lindau disease in hemangioblastoma patients: the University of Tokyo Hospital experience from 1954 to 1998. Acta Neurochirurgica, 143, 893–896.PubMedCrossRefGoogle Scholar
  415. Soravia, C., Sugg, S. L., Berk, T., Mitri, A., Cheng, H., Gallinger, S., Cohen, Z., Asa, S. L., & Bapat, B. V. (1999). Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study. The American Journal of Pathology, 154, 127–135.PubMedPubMedCentralCrossRefGoogle Scholar
  416. Sorrell, A. D., Espenschied, C. R., Culver, J. O., & Weitzel, J. N. (2013). Tumor protein p53 (TP53) testing and Li-Fraumeni syndrome : current status of clinical applications and future directions. Molecular Diagnosis & Therapy, 17, 31–47.CrossRefGoogle Scholar
  417. Stamatiou, K., Polizois, K., Kollaitis, G., Dahanis, S., Zafeiropoulos, G., Leventis, C., & Lambou, T. (2008). Cystic nephroma: a case report and review of the literature. Cases Journal, 1, 267.PubMedPubMedCentralCrossRefGoogle Scholar
  418. Stecher, C. W., Gronbaek, K., & Hasle, H. (2008). A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor. Pediatric Blood & Cancer, 50, 701–703.CrossRefGoogle Scholar
  419. Steinemann, D., Arning, L., Praulich, I., Stuhrmann, M., Hasle, H., Stary, J., Schlegelberger, B., Niemeyer, C. M., & Flotho, C. (2010). Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica, 95, 320–323.PubMedCrossRefGoogle Scholar
  420. Stenstrom, G., & Svardsudd, K. (1986). Pheochromocytoma in Sweden 1958-1981. An analysis of the National Cancer Registry Data. Acta Medica Scandinavica, 220, 225–232.PubMedCrossRefGoogle Scholar
  421. Stewart, C. J., Charles, A., & Foulkes, W. D. (2016). Gynecologic Manifestations of the DICER1 Syndrome. Surgical Pathology Clinic, 9, 227–241.CrossRefGoogle Scholar
  422. Stieglitz, E., & Loh, M. L. (2013). Genetic predispositions to childhood leukemia. Therapeutic advances in hematology, 4, 270–290.PubMedPubMedCentralCrossRefGoogle Scholar
  423. Stinco, G., Governatori, G., Mattighello, P., & Patrone, P. (2008). Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. The Journal of Dermatology, 35, 154–161.PubMedCrossRefGoogle Scholar
  424. Stratakis, C. A., Courcoutsakis, N. A., Abati, A., Filie, A., Doppman, J. L., Carney, J. A., & Shawker, T. (1997). Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). The Journal of Clinical Endocrinology and Metabolism, 82, 2037–2043.PubMedCrossRefGoogle Scholar
  425. Strullu, M., Caye, A., Lachenaud, J., Cassinat, B., Gazal, S., Fenneteau, O., Pouvreau, N., Pereira, S., Baumann, C., Contet, A., Sirvent, N., Mechinaud, F., Guellec, I., Adjaoud, D., Paillard, C., Alberti, C., Zenker, M., Chomienne, C., Bertrand, Y., Baruchel, A., Verloes, A., & Cave, H. (2014). Juvenile myelomonocytic leukaemia and Noonan syndrome. Journal of Medical Genetics, 51, 689–697.PubMedCrossRefGoogle Scholar
  426. Szymońska, I., Borgenvik, T. L., Karlsvik, T. M., Halsen, A., Malecki, B. K., Saetre, S. E., Jagła, M., Kruczek, P., Talowska, A. M., Drabik, G., Zasada, M., & Malecki, M. (2015). Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung’s Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster. Journal of genetic syndromes & gene therapy, 6, 269.Google Scholar
  427. Tachibana, I., Smith, J. S., Sato, K., Hosek, S. M., Kimmel, D. W., & Jenkins, R. B. (2000). Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. American Journal of Medical Genetics, 92, 136–141.PubMedCrossRefGoogle Scholar
  428. Tan, M. H., Mester, J. L., Ngeow, J., Rybicki, L. A., Orloff, M. S., & Eng, C. (2012). Lifetime cancer risks in individuals with germline PTEN mutations. Clinical cancer research : an official journal of the American Association for Cancer Research, 18, 400–407.CrossRefGoogle Scholar
  429. Tan, T. Y., & Amor, D. J. (2006). Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. Journal of Paediatrics and Child Health, 42, 486–490.PubMedCrossRefGoogle Scholar
  430. Tan, W. H., Baris, H. N., Burrows, P. E., Robson, C. D., Alomari, A. I., Mulliken, J. B., Fishman, S. J., & Irons, M. B. (2007). The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. Journal of Medical Genetics, 44, 594–602.PubMedPubMedCentralCrossRefGoogle Scholar
  431. Taylor, A. M., Metcalfe, J. A., Thick, J., & Mak, Y. F. (1996). Leukemia and lymphoma in ataxia telangiectasia. Blood, 87, 423–438.PubMedGoogle Scholar
  432. Taylor, M. D., Liu, L., Raffel, C., Hui, C. C., Mainprize, T. G., Zhang, X., Agatep, R., Chiappa, S., Gao, L., Lowrance, A., Hao, A., Goldstein, A. M., Stavrou, T., Scherer, S. W., Dura, W. T., Wainwright, B., Squire, J. A., Rutka, J. T., & Hogg, D. (2002). Mutations in SUFU predispose to medulloblastoma. Nature Genetics, 31, 306–310.PubMedCrossRefGoogle Scholar
  433. Thakker, R. V. (2016). Genetics of parathyroid tumours. Journal of Internal Medicine, 280, 574–583.PubMedCrossRefGoogle Scholar
  434. Theos, A., Korf, B. R., American College of Physicians, & American Physiological Society. (2006). Pathophysiology of neurofibromatosis type 1. Annals of Internal Medicine, 144, 842–849.PubMedCrossRefGoogle Scholar
  435. Thiagalingam, S., Flaherty, M., Billson, F., & North, K. (2004). Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology, 111, 568–577.PubMedCrossRefGoogle Scholar
  436. Thway, K., & Fisher, C. (2013). Malignant peripheral nerve sheath tumor: pathology and genetics. Annals of Diagnostic Pathology, 18, 109–116.PubMedCrossRefGoogle Scholar
  437. Tischler AS, (2004). Extra-adrenal sympathetic paraganglioma: Cervical, intrathoracic and urinary bladder. In: DeLellis RA, L.R., Heitz PU, Eng C (Ed.), World Health Organization Classification of Tumours, Tumours of Endocrine Organs. IARC Press, Lyon, pp. 165–166.Google Scholar
  438. Tiwari, P. K., Teron, P., Saikia, N., Saikia, H. P., Bhuyan, U. T., & Das, D. (2016). Juvenile Nasopharyngeal Angiofibroma: A Rise in Incidence. Indian Journal of Otolaryngology Head & Neck Surgery, 68, 141–148.CrossRefGoogle Scholar
  439. Toledano, H., Goldberg, Y., Kedar-Barnes, I., Baris, H., Porat, R. M., Shochat, C., Bercovich, D., Pikarsky, E., Lerer, I., Yaniv, I., Abeliovich, D., & Peretz, T. (2009). Homozygosity of MSH2 c.1906G-- > C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Familial Cancer, 8, 187–194.PubMedCrossRefGoogle Scholar
  440. Tomiak, E., de Kock, L., Grynspan, D., Ramphal, R., & Foulkes, W. D. (2014). DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS). Pediatric Blood & Cancer, 61, 568–569.CrossRefGoogle Scholar
  441. Tonsgard, J. H. (2006). Clinical manifestations and management of neurofibromatosis type 1. Seminars in Pediatric Neurology, 13, 2–7.PubMedCrossRefGoogle Scholar
  442. Tonsgard, J. H., Kwak, S. M., Short, M. P., & Dachman, A. H. (1998). CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology, 50, 1755–1760.PubMedCrossRefGoogle Scholar
  443. Torres, O. A., Roach, E. S., Delgado, M. R., Sparagana, S. P., Sheffield, E., Swift, D., & Bruce, D. (1998). Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. Journal of Child Neurology, 13, 173–177.PubMedCrossRefGoogle Scholar
  444. Tran, H., Nourse, J., Hall, S., Green, M., Griffiths, L., & Gandhi, M. K. (2008). Immunodeficiency-associated lymphomas. Blood Reviews, 22, 261–281.PubMedCrossRefGoogle Scholar
  445. Tricoli, J. V., Blair, D. G., Anders, C. K., Bleyer, W. A., Boardman, L. A., Khan, J., Kummar, S., Hayes-Lattin, B., Hunger, S. P., Merchant, M., Seibel, N. L., Thurin, M., & Willman, C. L. (2016). Biologic and clinical characteristics of adolescent and young adult cancers: Acute lymphoblastic leukemia, colorectal cancer, breast cancer, melanoma, and sarcoma. Cancer, 122, 1017–1028.PubMedPubMedCentralCrossRefGoogle Scholar
  446. Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frebourg, T., Munnich, A., Lyonnet, S., Delattre, O., & Amiel, J. (2004). Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. American Journal of Human Genetics, 74, 761–764.PubMedPubMedCentralCrossRefGoogle Scholar
  447. van Hulsteijn, L. T., Dekkers, O. M., Hes, F. J., Smit, J. W., & Corssmit, E. P. (2012). Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis. Journal of Medical Genetics, 49, 768–776.PubMedCrossRefGoogle Scholar
  448. van Lier, M. G., Wagner, A., Mathus-Vliegen, E. M., Kuipers, E. J., Steyerberg, E. W., & van Leerdam, M. E. (2010). High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. The American Journal of Gastroenterology, 105, 1258–1264 author reply 1265.PubMedCrossRefGoogle Scholar
  449. Varley, J. M. (2003). Germline TP53 mutations and Li-Fraumeni syndrome. Human Mutation, 21, 313–320.PubMedCrossRefGoogle Scholar
  450. Varley, J. M., McGown, G., Thorncroft, M., James, L. A., Margison, G. P., Forster, G., Evans, D. G., Harris, M., Kelsey, A. M., & Birch, J. M. (1999). Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. American Journal of Human Genetics, 65, 995–1006.PubMedPubMedCentralCrossRefGoogle Scholar
  451. Varon, R., Reis, A., Henze, G., von Einsiedel, H. G., Sperling, K., & Seeger, K. (2001). Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Research, 61, 3570–3572.PubMedGoogle Scholar
  452. Vassallo, M., Maruotti, G. M., Quarantelli, M., Pastore, G., & Paladini, D. (2012). Choroid plexus carcinoma: prenatal characterization by 3-dimensional sonography and magnetic resonance imaging, perinatal management, and natural history. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 31, 337–339.CrossRefGoogle Scholar
  453. Velez-Ruelas, M. A., Martinez-Jaramillo, G., Arana-Trejo, R. M., & Mayani, H. (2006). Hematopoietic changes during progression from Fanconi anemia into acute myeloid leukemia: case report and brief review of the literature. Hematology, 11, 331–334.PubMedCrossRefGoogle Scholar
  454. Vidal, A., Iglesias, M. J., Fernandez, B., Fonseca, E., & Cordido, F. (2008). Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1. Journal of the European Academy of Dermatology and Venereology : JEADV, 22, 835–838.PubMedCrossRefGoogle Scholar
  455. Villani, A., Tabori, U., Schiffman, J., Shlien, A., Beyene, J., Druker, H., Novokmet, A., Finlay, J., & Malkin, D. (2011). Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. The Lancet. Oncology, 12, 559–567.PubMedCrossRefGoogle Scholar
  456. Vinitsky, A., Zaleski, C. A., Sajjad, S. M., & McPherson, E. W. (2013). Intestinal ganglioneuromatosis: unusual presentation of Cowden syndrome resulting in delayed diagnosis. American journal of medical genetics. Part A, 161A, 1085–1090.PubMedCrossRefGoogle Scholar
  457. Wagner, A. S., Fleitz, J. M., & Kleinschmidt-Demasters, B. K. (2005). Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. Journal of Neuro-Oncology, 75, 127–133.PubMedCrossRefGoogle Scholar
  458. Wagner, M. W., Poretti, A., Huisman, T. A., & Bosemani, T. (2015). Conventional and advanced (DTI/SWI) neuroimaging findings in pediatric oligodendroglioma. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 31, 885–891.CrossRefGoogle Scholar
  459. Waller, L. P., Deshpande, V., & Pyrsopoulos, N. (2015). Hepatocellular carcinoma: A comprehensive review. World Journal of Hepatology, 7, 2648–2663.PubMedPubMedCentralCrossRefGoogle Scholar
  460. Walther, M. M., Herring, J., Enquist, E., Keiser, H. R., & Linehan, W. M. (1999). von Recklinghausen's disease and pheochromocytomas. The Journal of Urology, 162, 1582–1586.PubMedCrossRefGoogle Scholar
  461. Wang, L., & Cornford, M. E. (2002). Coincident choroid plexus carcinoma and adrenocortical carcinoma with elevated p53 expression: a case report of an 18-month-old boy with no family history of cancer. Archives of Pathology & Laboratory Medicine, 126, 70–72.Google Scholar
  462. Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., & Plon, S. E. (2003). Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. Journal of the National Cancer Institute, 95, 669–674.PubMedCrossRefGoogle Scholar
  463. Wang, L. L., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Lev, D., Rogers, M., & Plon, S. E. (2001). Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. American Journal of Medical Genetics, 102, 11–17.PubMedCrossRefGoogle Scholar
  464. Wang, Q., Lasset, C., Desseigne, F., Frappaz, D., Bergeron, C., Navarro, C., Ruano, E., & Puisieux, A. (1999). Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Research, 59, 294–297.PubMedGoogle Scholar
  465. Wang, W. L., Nero, C., Pappo, A., Lev, D., Lazar, A. J., & Lopez-Terrada, D. (2012). CTNNB1 genotyping and APC screening in pediatric desmoid tumors: a proposed algorithm. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 15, 361–367.CrossRefGoogle Scholar
  466. Watson, J., Depasquale, K., Ghaderi, M., & Zwillenberg, S. (2004). Nevoid basal cell carcinoma syndrome and fetal rhabdomyoma: a case study. Ear, Nose, & Throat Journal, 83, 716–718.Google Scholar
  467. Webster, A. R., Maher, E. R., & Moore, A. T. (1999). Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Archives of Ophthalmology, 117, 371–378.PubMedCrossRefGoogle Scholar
  468. Wells, G. B., Lasner, T. M., Yousem, D. M., & Zager, E. L. (1994). Lhermitte-Duclos disease and Cowden's syndrome in an adolescent patient. Case report. Journal of neurosurgery, 81, 133–136.PubMedCrossRefGoogle Scholar
  469. West, A. H., Godley, L. A., & Churpek, J. E. (2014). Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Annals of the New York Academy of Sciences, 1310, 111–118.PubMedPubMedCentralCrossRefGoogle Scholar
  470. WHO, World Health Organization Classification of Tumours. (2004). Pathology and genetics of tumours of the urinary system and male 3974 genital organs. Lyon: IARC Press.Google Scholar
  471. Wilhelm, M., Hirsch, W., Merkenschlager, A., Stepan, H., Geyer, C., & Kiess, W. (2012). A rare case of congenital choroid plexus carcinoma. Pediatric Hematology and Oncology, 29, 643–646.PubMedCrossRefGoogle Scholar
  472. Williams, V. C., Lucas, J., Babcock, M. A., Gutmann, D. H., Korf, B., & Maria, B. L. (2009). Neurofibromatosis type 1 revisited. Pediatrics, 123, 124–133.PubMedCrossRefGoogle Scholar
  473. Wimmer, K., & Etzler, J. (2008). Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Human Genetics, 124, 105–122.PubMedCrossRefGoogle Scholar
  474. Wimmer, K., & Kratz, C. P. (2010). Constitutional mismatch repair-deficiency syndrome. Haematologica, 95, 699–701.PubMedPubMedCentralCrossRefGoogle Scholar
  475. Wimmer, K., Kratz, C. P., Vasen, H. F., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A. M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., & Brugieres, L. (2014). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). Journal of Medical Genetics, 51, 355–365.PubMedCrossRefGoogle Scholar
  476. Witkowski, L., Carrot-Zhang, J., Albrecht, S., Fahiminiya, S., Hamel, N., Tomiak, E., Grynspan, D., Saloustros, E., Nadaf, J., Rivera, B., Gilpin, C., Castellsague, E., Silva-Smith, R., Plourde, F., Wu, M., Saskin, A., Arseneault, M., Karabakhtsian, R. G., Reilly, E. A., Ueland, F. R., Margiolaki, A., Pavlakis, K., Castellino, S. M., Lamovec, J., Mackay, H. J., Roth, L. M., Ulbright, T. M., Bender, T. A., Georgoulias, V., Longy, M., Berchuck, A., Tischkowitz, M., Nagel, I., Siebert, R., Stewart, C. J., Arseneau, J., McCluggage, W. G., Clarke, B. A., Riazalhosseini, Y., Hasselblatt, M., Majewski, J., & Foulkes, W. D. (2014). Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nature Genetics, 46, 438–443.PubMedCrossRefGoogle Scholar
  477. Woehrer, A., Slavc, I., Waldhoer, T., Heinzl, H., Zielonke, N., Czech, T., Benesch, M., Hainfellner, J. A., Haberler, C., & Austrian Brain Tumor, R. (2010). Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer, 116, 5725–5732.PubMedCrossRefGoogle Scholar
  478. Wolfe, H. J., Melvin, K. E., Cervi-Skinner, S. J., Saadi, A. A., Juliar, J. F., Jackson, C. E., & Tashjian Jr., A. H. (1973). C-cell hyperplasia preceding medullary thyroid carcinoma. The New England Journal of Medicine, 289, 437–441.PubMedCrossRefGoogle Scholar
  479. Wolff, J. E., Sajedi, M., Brant, R., Coppes, M. J., & Egeler, R. M. (2002). Choroid plexus tumours. British Journal of Cancer, 87, 1086–1091.PubMedPubMedCentralCrossRefGoogle Scholar
  480. Wong, J. R., Morton, L. M., Tucker, M. A., Abramson, D. H., Seddon, J. M., Sampson, J. N., & Kleinerman, R. A. (2014). Risk of subsequent malignant neoplasms in long-term hereditary retinoblastoma survivors after chemotherapy and radiotherapy. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32, 3284–3290.CrossRefGoogle Scholar
  481. Wong, P., Verselis, S. J., Garber, J. E., Schneider, K., DiGianni, L., Stockwell, D. H., Li, F. P., & Syngal, S. (2006). Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology, 130, 73–79.PubMedCrossRefGoogle Scholar
  482. Wrede, B., Liu, P., & Wolff, J. E. (2007). Chemotherapy improves the survival of patients with choroid plexus carcinoma: a meta-analysis of individual cases with choroid plexus tumors. Journal of Neuro-Oncology, 85, 345–351.PubMedCrossRefGoogle Scholar
  483. Wynne, A. G., van Heerden, J., Carney, J. A., & Fitzpatrick, L. A. (1992). Parathyroid carcinoma: clinical and pathologic features in 43 patients. Medicine, 71, 197–205.PubMedCrossRefGoogle Scholar
  484. Yamada, H., Shinmura, K., Yamamura, Y., Kurachi, K., Nakamura, T., Tsuneyoshi, T., Yokota, N., Maekawa, M., & Sugimura, H. (2009). Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer. International Journal of Cancer, 125, 973–976.PubMedCrossRefGoogle Scholar
  485. Yamazaki, Y., Sugita, K., Kurosawa, H., Ozawa, T., Eguchi, M., Wakai, S., & Hata, J. (2000). Malignant fibrous histiocytoma preceding medulloblastoma. Journal of Pediatric Hematology/Oncology, 22, 480–481.PubMedCrossRefGoogle Scholar
  486. Yinon, Y., Chitayat, D., Blaser, S., Seed, M., Amsalem, H., Yoo, S. J., & Jaeggi, E. T. (2010). Fetal cardiac tumors: a single-center experience of 40 cases. Prenatal Diagnosis, 30, 941–949.PubMedCrossRefGoogle Scholar
  487. Young, R.H., 2005. Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 18 Suppl 2, S81–98.Google Scholar
  488. Young, R. H., Welch, W. R., Dickersin, G. R., & Scully, R. E. (1982). Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer, 50, 1384–1402.PubMedCrossRefGoogle Scholar
  489. Yu, D. C., Grabowski, M. J., Kozakewich, H. P., Perez-Atayde, A. R., Voss, S. D., Shamberger, R. C., & Weldon, C. B. (2010). Primary lung tumors in children and adolescents: a 90-year experience. Journal of Pediatric Surgery, 45, 1090–1095.PubMedCrossRefGoogle Scholar
  490. Yuh, E. L., Barkovich, A. J., & Gupta, N. (2009). Imaging of ependymomas: MRI and CT. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 25, 1203–1213.CrossRefGoogle Scholar
  491. Zeller, B., Gustafsson, G., Forestier, E., Abrahamsson, J., Clausen, N., Heldrup, J., Hovi, L., Jonmundsson, G., Lie, S. O., Glomstein, A., Hasle, H., & Nordic Society of Paediatric Haematology Oncology. (2005). Acute leukaemia in children with Down syndrome: a population-based Nordic study. British Journal of Haematology, 128, 797–804.PubMedCrossRefGoogle Scholar
  492. Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., Wilkinson, M. R., Vadodaria, B., Chen, X., McGee, R. B., Hines-Dowell, S., Nuccio, R., Quinn, E., Shurtleff, S. A., Rusch, M., Patel, A., Becksfort, J. B., Wang, S., Weaver, M. S., Ding, L., Mardis, E. R., Wilson, R. K., Gajjar, A., Ellison, D. W., Pappo, A. S., Pui, C. H., Nichols, K. E., & Downing, J. R. (2015a). Germline Mutations in Predisposition Genes in Pediatric Cancer. The New England Journal of Medicine, 373, 2336–2346.PubMedPubMedCentralCrossRefGoogle Scholar
  493. Zhang, M. Y., Churpek, J. E., Keel, S. B., Walsh, T., Lee, M. K., Loeb, K. R., Gulsuner, S., Pritchard, C. C., Sanchez-Bonilla, M., Delrow, J. J., Basom, R. S., Forouhar, M., Gyurkocza, B., Schwartz, B. S., Neistadt, B., Marquez, R., Mariani, C. J., Coats, S. A., Hofmann, I., Lindsley, R. C., Williams, D. A., Abkowitz, J. L., Horwitz, M. S., King, M. C., Godley, L. A., & Shimamura, A. (2015b). Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nature Genetics, 47, 180–185.PubMedPubMedCentralCrossRefGoogle Scholar
  494. Zhukova, N., Ramaswamy, V., Remke, M., Pfaff, E., Shih, D. J., Martin, D. C., Castelo-Branco, P., Baskin, B., Ray, P. N., Bouffet, E., von Bueren, A. O., Jones, D. T., Northcott, P. A., Kool, M., Sturm, D., Pugh, T. J., Pomeroy, S. L., Cho, Y. J., Pietsch, T., Gessi, M., Rutkowski, S., Bognar, L., Klekner, A., Cho, B. K., Kim, S. K., Wang, K. C., Eberhart, C. G., Fevre-Montange, M., Fouladi, M., French, P. J., Kros, M., Grajkowska, W. A., Gupta, N., Weiss, W. A., Hauser, P., Jabado, N., Jouvet, A., Jung, S., Kumabe, T., Lach, B., Leonard, J. R., Rubin, J. B., Liau, L. M., Massimi, L., Pollack, I. F., Shin Ra, Y., Van Meir, E. G., Zitterbart, K., Schuller, U., Hill, R. M., Lindsey, J. C., Schwalbe, E. C., Bailey, S., Ellison, D. W., Hawkins, C., Malkin, D., Clifford, S. C., Korshunov, A., Pfister, S., Taylor, M. D., & Tabori, U. (2013). Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 31, 2927–2935.CrossRefGoogle Scholar
  495. Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. A., Walker, G. J., Hayward, N., & Dracopoli, N. C. (1996). Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nature Genetics, 12, 97–99.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  1. 1.Department of Pediatrics, Baylor College of Medicine, Texas Children’s Cancer CenterTexas Children’s HospitalHoustonUSA
  2. 2.Myriad Genetic LaboratoriesDaytonUSA
  3. 3.University of VirginiaCharlottesvilleUSA
  4. 4.Department of Genetics and MetabolismChildren’s National Medical CenterWashingtonUSA
  5. 5.Department of Pediatrics, University of Colorado, Center for Cancer and Blood DisordersChildren’s Hospital ColoradoAuroraUSA

Personalised recommendations