Skip to main content
SpringerLink
Log in

Common Hereditary Cancer Syndromes

  • Chapter
Molecular Oncology Testing for Solid Tumors

  • 1198 Accesses

Abstract

Cancer is a genetic disease. Cancer is distinct from most genetic conditions, however, because its associated genetic mutations are usually acquired (i.e., not inherited), and cancer involves multiple genetic mutations. A subset of cancers, however, follows classic Mendelian inheritance patterns. These hereditary cancers are the focus of this chapter.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68(4):820–3.

    Article  PubMed Central  PubMed  Google Scholar 

  2. Lindor NM, McMaster ML, Lindor CJ, Greene MH, National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group. Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr. 2008;38:1–93. doi:(38):1–93.

    PubMed  Google Scholar 

  3. American Cancer Society. Breast cancer facts & figures 2013–2014. Atlanta: American Cancer Society, Inc., 2013.

    Google Scholar 

  4. Bougie O, Weberpals JI. Clinical considerations of BRCA1- and BRCA2-mutation carriers: a review. Int J Surg Oncol. 2011;2011:374012.

    PubMed Central  CAS  PubMed  Google Scholar 

  5. Antoniou A, Pharoah P, Narod S, Risch H, Eyfjord J, Hopper J. Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected case series unselected from family hisotry: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  6. Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2007;96:11.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  7. Moran A, O’Hara C, Khan S, Shack L, Woodward E, Maher E, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012;11(2):235–42.

    Google Scholar 

  8. Domchek S, Tang J, Stopher J. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discovery 2013;3(4):399–405.

    Google Scholar 

  9. Lavie O, Narod S, Lejbkowicz F, Dishon S, Goldberg Y, Gemer O, et al. Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. Ann Oncol. 2011;22(4):964–6.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. van der Groep P, van der Wall E, van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordr). 2011;34(2):71–88.

    Article  Google Scholar 

  11. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255–63.

    Article  CAS  PubMed  Google Scholar 

  12. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975–86.

    Article  CAS  PubMed  Google Scholar 

  13. American Cancer Society. Colorectal cancer facts & figures 2014–2016. Atlanta: American Cancer Society, Inc., 2014.

    Google Scholar 

  14. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial Adenomatous Polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994;3:121.

    Article  CAS  PubMed  Google Scholar 

  15. Lindor NM. Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. Best Pract Res Clin Gastroenterol. 2009;23(1):75–87.

    Article  CAS  PubMed  Google Scholar 

  16. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K, American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010;28(5):893–901.

    Article  PubMed  Google Scholar 

  17. de la chapelle A. The incidence of Lynch syndrome. Fam Cancer. 2005;4(3):233.

    Article  PubMed  Google Scholar 

  18. Tutlewska K, Lubinski J, Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hered Cancer Clin Pract. 2013;11(1):9. 4287-11-9.

    Article  PubMed Central  PubMed  Google Scholar 

  19. Senter L, Clendenning M, Sotamaa K. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135:419.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  20. Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet. 2014;51(6):355–65.

    Article  CAS  PubMed  Google Scholar 

  21. Vasen HF, Watson P, Mecklin J, Lynch H. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453.

    Article  CAS  PubMed  Google Scholar 

  22. Nose V. Familial thyroid cancer: a review. Mod Pathol. 2011;24 Suppl 2:S19–33.

    Article  CAS  PubMed  Google Scholar 

  23. Pilarski R, Nagy R. Genetic testing by cancer site: endocrine system. Cancer J. 2012;18(4):364.

    Article  CAS  PubMed  Google Scholar 

  24. Lonser RR, Butman JA, Huntoon K, Asthagiri AR, Wu T, Bakhtian KD, et al. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Neurosurg. 2014;120(5):1055–62.

    Google Scholar 

  25. Lefebvre M, Foulkes WD. Pheochromocytoma and paraganglioma syndromes: genetics and management update. Curr Oncol. 2014;21(1), e8.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Byler T, Bratslavsky G. Hereditary Renal cell carcinoma: genetics, clinical features, and surgical considerations. World J Urol. 2014;32(3):623–30.

    Google Scholar 

  27. Przybycin C, Magi-Galluzzi C, McKenney J. Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens. Adv Anat Pathol. 2013;20(4):245.

    Article  PubMed  Google Scholar 

  28. Rustgi AK. Familial pancreatic cancer: genetic advances. Genes Dev. 2014;28(1):1–7.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  29. Fendrich V, Langer P, Bartsch DK. Familial pancreatic cancer-status quo. Int J Colorect Dis. 2014;29(2):139–45.

    Article  Google Scholar 

  30. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15(9):733–47.

    Article  PubMed Central  PubMed  Google Scholar 

  31. Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012;30(11):1033–6.

    Article  CAS  PubMed  Google Scholar 

  32. Aziz N, Zhao Q, Bry L, et al. College of American Pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med. 2015;139(4):481–93.

    Google Scholar 

  33. Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns. 2012;21(2):151–61.

    Article  PubMed  Google Scholar 

  34. Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med. 2008;10(4):294–300.

    Article  CAS  PubMed  Google Scholar 

  35. National Society of Genetic Counselors’ Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, et al. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. J Genet Couns. 2006;15(2):77–83.

    Article  Google Scholar 

  36. Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns. 2014;24.

    Google Scholar 

Download references

Acknowledgement

We would like to thank Dr. Arti Pandya for her review of parts of this chapter.

Author information

Authors and Affiliations

  1. Massey Cancer Center, Virginia Commonwealth University Health System, 1101 East Marshall Street, Richmond, VA, 23298-0033, USA

    Heather A. Creswick

  2. Department of Human and Molecular Genetics, Virginia Commonwealth University Health System, 1101 East Marshall Street, Richmond, VA, 23298-0033, USA

    John M. Quillin Ph.D., M.P.H.

Authors
  1. Heather A. Creswick
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. John M. Quillin Ph.D., M.P.H.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to John M. Quillin Ph.D., M.P.H. .

Editor information

Editors and Affiliations

  1. Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA

    Michael Ola Idowu

  2. Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA

    Catherine Isabelle Dumur

  3. Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA

    Carleton Theodore Garrett

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Creswick, H.A., Quillin, J.M. (2015). Common Hereditary Cancer Syndromes. In: Idowu, M., Dumur, C., Garrett, C. (eds) Molecular Oncology Testing for Solid Tumors. Springer, Cham. https://doi.org/10.1007/978-3-319-16304-8_19

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-16304-8_19

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-16303-1

  • Online ISBN: 978-3-319-16304-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation