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“DNA-Guided” Therapy

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Multiple Primary Malignancies

Part of the book series: Updates in Surgery ((UPDATESSURG))

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Abstract

Rapid progress in understanding the biomolecular basis of disease has brought new concepts to the diagnosis and treatment of some hereditary tumors. After the genes causing the syndromes were identified, the first step was the adoption of predictive genetic tests to identify within affected families those subjects considered to be carriers of the mutations, and then to enroll them in intensive surveillance program and perhaps even to offer prophylactic therapy. Over the years, and particularly following the detection of many types of alterations in the genes responsible for hereditary tumors, it has become possible to correlate genotype, as determined by genetic testing, with the heterogeneous forms of phenotypic expression and clinical manifestations, and thus to provide patients with prognostic information.

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References

  1. Bodmer WF, Bailey CJ, Bodmer J et al (1987) Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328:614–16

    Article  PubMed  CAS  Google Scholar 

  2. Groden J, Thliveris A, Samowitz W (1991) Identification of the gene for familial adenomatous coli gene. Cell 66:589–600

    Article  PubMed  CAS  Google Scholar 

  3. Renda A, Izzo P, Carlomagno N et al (1997) Implicazioni cliniche delle conoscenze molecolari nei tumori eredofamiliari del colon-retto. Atti 99° Congresso Nazionale Società Italiana di Chirurgia. Pozzi, Rome

    Google Scholar 

  4. Leite JS, Isidro G, Martins M et al (2005) Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis 7:327–331

    Article  PubMed  CAS  Google Scholar 

  5. Vasen HFA (1991) The international collaborative Group on Hereditary non-polyposis colorectal cancer. Dis Col Rectum 34:425–425

    Article  Google Scholar 

  6. Rodriguez-Bigas MA, Boland CR, Hamilton SR et al (1997) A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89:1758–1762

    Article  PubMed  CAS  Google Scholar 

  7. Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268

    PubMed  CAS  Google Scholar 

  8. Vasen HF, Watson P, Mecklin JP, Lynch HAT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6):1453–1456

    Article  PubMed  CAS  Google Scholar 

  9. Peterson G (1999) Genetic testings for cancer: the surgeon’s critical role. Clinical cancer genetics: 1998 (what’s available to you in your practice). J Am Coll Surg 188(1):89–93

    PubMed  CAS  Google Scholar 

  10. Batra S, Valdimarsdottir H, McGovern M et al (2002) Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology. Am J Gastroenterol 97(3):729–733

    Article  PubMed  Google Scholar 

  11. Schroy PC, Barrison AF, Ling BS et al (2002) Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol 97:1031–1036

    Article  PubMed  Google Scholar 

  12. Schroy Lynch HT, Lynch JF (2000) Hereditary nonpolyposis colorectal cancer. Semin Surg Oncol 18(4):305–313

    Article  Google Scholar 

  13. Jarvinen HJ (1995) Screening reduces colorectal cancer rates in families with hereditary non-polyposis colorectal cancer. Gastroenterology 108:1405–1411

    Article  PubMed  CAS  Google Scholar 

  14. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G et al (2002) Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 45:1588–1594

    Article  Google Scholar 

  15. Scacheri PC, Davis S, Odom DT et al (2006) Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLoS Genet 2(4): e51. DOI:10.1371/journal.pgen.0020051

    Article  PubMed  CAS  Google Scholar 

  16. Geerdink EAM, Van der Luijt1 RB, Lips CJM (2003) Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol 149:577–582

    Article  PubMed  CAS  Google Scholar 

  17. Schussheim DH, Skarulis MC, Agarwal SK et al (2001) Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab 12:173–178

    Article  PubMed  CAS  Google Scholar 

  18. Kopp I, Bartsch D, Wild A et al (2001) Predictive genetic screening and clinical findings in multiple endocrine neoplasia type 1 families. World J Surg 25:610–616

    Article  PubMed  CAS  Google Scholar 

  19. Marini F, Falchetti A, Del Monte F et al (2006) Multiple endocrine neoplasia type 2 Orphanet J Rare Dis 1:45

    Article  PubMed  Google Scholar 

  20. Lairmore TC, Wells SA Jr, Moley Jeffrey F (2003) Sindromi da neoplasie multiendocrine. In: Sabiston (ed) Trattato di chirurgia. Le basi biologiche della moderna pratica chirurgica, prima edizione italiana sulla sedicesima americana. Antonio Delfino Editore, Rome, pp 697–707

    Google Scholar 

  21. Robson ME (2002) Clinical considerations in the management of individuals at risk for hereditary breast and ovarian cancer cancer control. Cancer Control 9:457–465

    PubMed  Google Scholar 

  22. Botkin JR, Smith KR, Croyle RT et al (2003) Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet 118A:201–209

    Article  PubMed  Google Scholar 

  23. Schmeler KM, Sun CC, Bodurka DC et al (2006) Prophylactic bilateral salpingooophorectomy compared with surveillance in women with BRCA mutations. Obstet Gynecol 108:515–520

    PubMed  Google Scholar 

  24. Jacobs IJ, Skates SJ, MacDonald N et al (1999) Screening for ovarian cancer: a pilot randomised controlled trial. Lancet 353:1207–1210

    Article  PubMed  CAS  Google Scholar 

  25. van Nagell JR Jr, DePriest PD, Reedy MB et al (2000) The efficacy of transvaginal sonographic screening in asymptomatic women at risk for ovarian cancer. Gynecol Oncol 77:350–356

    Article  PubMed  Google Scholar 

  26. Vasen HF, van der Luijt RB, Slors JF et al (1996) Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet 348(9025):433–435

    Article  PubMed  CAS  Google Scholar 

  27. Nugent KP, Philips RKS (1992) Rectal cancer risk in older patients with familial adenomatous polyposis and an ileorectal anastomosis: a cause for concern. Br J Surg 79:1204–1206

    Article  PubMed  CAS  Google Scholar 

  28. Renda A, Izzo P, D’Armeinto F et al (2004) Chirurgia oncologica “Dna-guidata”. Archivio e Atti SIC, vol. 1. Pozzi, Rome, pp 141–172

    Google Scholar 

  29. Church JM (1995) The ileal pouch-anal anastomosis in challenging patients: stretching the limits. Aust N Z J Surg 65(2): 104–106

    Article  PubMed  CAS  Google Scholar 

  30. Huls G, Koornstra JJ, Kleibeuker JH (2003) Non-steroidal anti-inflammatory drugs and molecular carcinogenesis of colorectal carcinomas. Lancet 362(9379):230–232

    Article  PubMed  CAS  Google Scholar 

  31. Sandler RS, Halabi S, Baron JA et al (2003) A randomized trial of aspirin to prevent colorectal adenomas in patients with previous colorectal cancer. N Engl J Med 348(10):883–890

    Article  PubMed  CAS  Google Scholar 

  32. Waddell WR, Loughry RW (1983) Sulindac for polyposis of the colon. J Surg Oncol 24(1):83–87

    Article  PubMed  CAS  Google Scholar 

  33. Giardiello FM, Hamilton SR, Krush AJ et al (1993) Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 328:1313–1316

    Article  PubMed  CAS  Google Scholar 

  34. Giardiello FM, Yang VW, Hylind LM et al (2002) Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346:1054–1059

    Article  PubMed  CAS  Google Scholar 

  35. Annie Yu HJ, Lin KM, Ota DM et al (2003) Hereditary nonpolyposis colorectal cancer: preventive management. Cancer Treat Rev 29(6):461–470

    Article  PubMed  Google Scholar 

  36. Karnes WE Jr, Shattuck-Brandt R, Burgart LJ et al (1998) Reduced COX-2 protein in colorectal cancer with defective mismatch repair. Cancer Res 58:5473–5477

    PubMed  CAS  Google Scholar 

  37. Sinicrope FA, Lemoine M, Xi L et al (1999) Reduced expression of cyclooxygenase 2 proteins in hereditary nonpolyposis colorectal cancers relative to sporadic cancers. Gastroenterology 117:350–358

    Article  PubMed  CAS  Google Scholar 

  38. Toledo SPA, Cortina MA, Toledo RA, Lourenço DM (2006) Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics 61(1):59–70

    Article  PubMed  Google Scholar 

  39. Cohen MS, Moley JF (2003) Surgical treatment of medullary thyroid carcinoma. J Intern Med 253:616–626

    Article  PubMed  CAS  Google Scholar 

  40. Modigliani E, Coben R, Campos JM et al (1998) Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d’étude des tumeurs à calcitonine. Clin Endocrinol (Oxf) 48:265–273

    Article  CAS  Google Scholar 

  41. Gill JR, Reyes-Mugica M, Iyengar S et al (1996) Early presentation of metastatic medullary cancer on multiple endocrine neoplasia, type IIA: implications for therapy. J Pediatr 129:459–464

    Article  PubMed  CAS  Google Scholar 

  42. Stjernholm MR, Freudenbourg JC, Mooney HS et al (1980) Medullary carcinoma of the thyroid before age 2 years. J Clin Endocrinol Metab 51:252–253

    Article  PubMed  CAS  Google Scholar 

  43. Kaufman FR, Roe TF, Isaacs Jr H, Weitzman JJ (1982) Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. Pediatrics 70:263–267

    PubMed  CAS  Google Scholar 

  44. Samaan NA, Draznin MB, Halpin RE et al (1991) Multiple endocrine syndrome type IIb in early childhood. Cancer 68:1832–1834

    Article  PubMed  CAS  Google Scholar 

  45. Skinner MA, DeBenedetti MK, Moley JF et al (1996) Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J Pediatr Surg 31:177–181

    Article  PubMed  CAS  Google Scholar 

  46. Smith VV, Eng C, Milla PJ (1999) Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment. Gut 45:143–146

    Article  PubMed  CAS  Google Scholar 

  47. Brandi ML, Gagel RF, Angeli A et al (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671

    Article  PubMed  CAS  Google Scholar 

  48. Lerman C, Hughes C, Croyle RT et al (2000) Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med 31:75–80

    Article  PubMed  CAS  Google Scholar 

  49. Rebbeck TR, Friebel T, Lynch HT et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22(6): 1055–1062

    Article  PubMed  Google Scholar 

  50. Kauf ND, Satagopan JM, Robson ME et al (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615

    Article  Google Scholar 

  51. Olivier RI (2004) Clinical outcome of prophylactic oophorectomy in BRCA1/BRCA2 mutation carriers and events during follow-up. Br J Cancer 90(8):1492–1497

    Article  PubMed  CAS  Google Scholar 

  52. Iglehart JD, Kaelin CM (2003) Malattie della mammella. In: Sabiston (ed) Trattato di chirurgia. Le basi biologiche della moderna pratica chirurgica, prima edizione italiana sulla sedicesima americana. Antonio Delfino Editore, Rome, pp 555–590

    Google Scholar 

  53. Burke W, Daly M, Garber J et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277:997–1003

    Article  PubMed  CAS  Google Scholar 

  54. Hartmann LC, Schaid DJ, Woods JE et al (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340:77–84

    Article  PubMed  CAS  Google Scholar 

  55. Hartmann LC, Sellers TA, Schaid DJ et al (2001) Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 93:1633–1637

    Article  PubMed  CAS  Google Scholar 

  56. Meijers-Heijboer H, van Geel B, van Putten WL et al (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159–164

    Article  PubMed  CAS  Google Scholar 

  57. Hartmann LC, Degnim A, Schaid DJ (2004) Prophylactic mastectomy for BRCA1/2 carriers: progress and more questions. J Clin Oncol 22(6):981–983

    Article  PubMed  Google Scholar 

  58. Julian-Reynier CM, Bouchard LJ, Evans DG et al (2001) Women’s attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women. Cancer 15:959–968

    Article  Google Scholar 

  59. Renda A, Romano G, Carlomagno N et al (1992) Il follow-up degli operati per poliposi familiare del colon. Atti della SIC, vol. 3. Pozza, Rome, pp 229–252

    Google Scholar 

  60. Lynch HT, Lynch JF (2000) Hereditary nonpolyposis colorectal cancer. Semin Surg Oncol 18(4):305–313

    Article  PubMed  CAS  Google Scholar 

  61. Rodriguez-Bigas MA, Vasen HF, Pekka-Mecklin J et al (1997) Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. Ann Surg 225:202–207

    Article  PubMed  CAS  Google Scholar 

  62. Hahn M, Saeger HD, Schackert HK (1999) Hereditary colorectal cancer: clinical consequences of predictive molecular testing. Int J Colorectal Dis 14:184–193

    Article  PubMed  CAS  Google Scholar 

  63. Weber T (1996) Clinical surveillance recommendations adopted for HNPCC. Lancet 348:465

    Article  Google Scholar 

  64. National Comprehensive Cancer Network (2003) Clinical practice guidelines in oncology. Available at: www.nccn.org

    Google Scholar 

  65. Del Vecchio Blanco C, Renda A (1999) Il trattamento dei tumori del colon-retto. Conferenza Regionale Campana. Giuseppe de Nicola Editore, Naples

    Google Scholar 

  66. Schmeler KM, Lynch HT, Chen LM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354(3):261–269

    Article  PubMed  CAS  Google Scholar 

  67. Jimenez C, Gagel RF (2004) Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2) Growth Horm IGF Re, 14(Suppl A):S150–S157

    Article  CAS  Google Scholar 

  68. Eccles DM (2004) Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Ann Oncol 15(Suppl 4): iv133–iv138

    PubMed  Google Scholar 

  69. Elit L (2001) Familial ovarian cancer. Can Fam Physician 47:778–784

    PubMed  CAS  Google Scholar 

  70. Eisinger F (1998) Recommendations for medical management of hereditary breast and ovarian cancer: The French National Ad Hoc Committee. Ann Oncol 9:939–950

    Article  PubMed  CAS  Google Scholar 

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Carlomagno, N., Pelosio, L., Jamshidi, A., Duraturo, F., Izzo, P., Renda, A. (2009). “DNA-Guided” Therapy. In: Multiple Primary Malignancies. Updates in Surgery. Springer, Milano. https://doi.org/10.1007/978-88-470-1095-6_17

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  • DOI: https://doi.org/10.1007/978-88-470-1095-6_17

  • Publisher Name: Springer, Milano

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