Endoscopic diagnosis and management of hereditary nonpolyposis colorectal cancer

Current Opinion in Gastroenterology

Volumn 20, Issue 5, 2004, Pages 468-473

  Bliss Jr , Charles M ^a   Schroy III, Paul C ^a  

^a BOSTON MEDICAL CENTER   (United States)

Author keywords

Colonoscopy; Genetic testing; Hereditary nonpolyposis colorectal cancer; Screening; Surveillance

Indexed keywords

EXO1 PROTEIN; MISMATCH REPAIR PROTEIN PMS1; MISMATCH REPAIR PROTEIN PMS2; PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH3; PROTEIN MSH6; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; BILIARY TRACT CANCER; CANCER DIAGNOSIS; CANCER GENETICS; CANCER INCIDENCE; CANCER MORTALITY; CANCER SURGERY; CLINICAL FEATURE; COLON RESECTION; COLONOSCOPY; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST; DISEASE ASSOCIATION; ENDOMETRIUM CANCER; FAMILIAL CANCER; GENE MUTATION; GENETIC PREDISPOSITION; HIGH RISK POPULATION; HUMAN; KIDNEY PELVIS CARCINOMA; LIFE EXPECTANCY; MISMATCH REPAIR; MUIR TORRE SYNDROME; OVARY CANCER; PANCREAS CANCER; QUALITY ADJUSTED LIFE YEAR; QUALITY OF LIFE; REVIEW; SIGMOIDOSCOPY; SMALL INTESTINE CANCER; STOMACH CANCER; TURCOT SYNDROME; URETER CANCER;

EID: 4344581506     PISSN: 02671379     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001574-200409000-00009     Document Type: Review

References (29)

1. Lynch HT, de la Chapelle A: Hereditary colorectal cancer. N Engl J Med 2003, 348:919-932. A concise, well-written review of HNPCC.
2. Giardiello FM, Brensinger JD, Petersen GM: AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001, 121:198-213.
3. Vasen HF, Wijnen JT, Menko FH, et al.: Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110:1020-1027.
4. Jass JR, Stewart SM: Evolution of hereditary non-polyposis colorectal cancer. Gut 1992, 33:783-786.
5. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP: Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996, 110:682-687.
6. Chung DC, Rustgi AK: The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003, 138:560-570. An excellent, updated review of HNPCC.
7. Boland CR, Thibodeau SN, Hamilton SR, et al.: A National Cancer Institute Workshop on Microsatellite Instability for cancer detetection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998, 58:5248-5257.
8. Vasen HF, Mecklin JP, Khan PM, Lynch HT: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425.
9. Vasen HF, Watson P, Mecklin JP, Lynch HT: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999, 116:1453-1456.
10. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al.: A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997, 89:1758-1762.
11. Umar A, Boland CR, Terdiman JP, et al.: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004, 96:261-268. A comprehensive review of MSI testing for HNPCC and revised guidelines for genetic testing. Clinically useful.
12. Reyes CM, Allen BA, Terdiman JP, Wilson LS: Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma: effectiveness and cost-effectiveness. Cancer 2002, 95:1848-1856.
13. Ramsey SD, Burke W, Clarke L: An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med 2003, 5:353-363. Four different genetic testing strategies are compared in an effort to identify a single most cost-effective approach for diagnosing HNPCC.
14. American Gastroenterological Association: Medical position statement: hereditary colorectal cancer and genetic testing. Gastroenterology 2001, 121:195-197.
15. Smith RA, Cokkinides V, von Eschenbach AC, et al.: American Cancer Society guidelines for the early detection of cancer. CA Cancer J Clin 2002, 52:8-22.
16. Winawer S, Fletcher R, Rex D, et al.: Colorectal cancer screening and surveillance: clinical guidelines and rationale. Update based on new evidence. Gastroenterology 2003, 124:544-560. Evidence-based screening and surveillance recommendations for individuals at average and increased risk of colorectal cancer. A must read.
17. Love RR, Morrissey JF: Colonoscopy in asymptomatic individuals with a family history of colorectal cancer. Arch Intern Med 1984, 144:2209-2211.
18. Vasen HF, den Hartog Jager FC, Menko FH, Nagengast FM: Screening for hereditary non-polyposis colorectal cancer: a study of 22 kindreds in The Netherlands. Am J Med 1989, 86:278-281.
19. Mecklin JP, Jarvinen HJ, Aukee I, et al.: Screening for colorectal cancer in cancer family syndrome kindreds. Scand J Gastroenterol 1987, 22:440-453.
20. Jarvinen HJ, Aarnio M, Mustonen H, et al.: Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000, 118:829-834.
21. Syngal S, Weeks JC, Schrag D, et al.: Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 1998, 129:787-796.
22. Lynch HT: Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers? Dis Colon Rectum 1996, 39:109-110.
23. Scaife CL, Rodriguez-Bigas MA: Lynch syndrome: implications for the surgeon. Clin Colorectal Cancer 2003, 3:92-98. A rational overview of issues surrounding the surgical management of HNPCC.
24. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al.: Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut 2003, 52:1752-1755. A decision analysis comparing the impact of subtotal colectomy vs hemicolectomy on life expectancy in HNPCC.
25. Lanspa SJ, Jenkins JX, Cavalieri RJ, et al.: Surveillance in Lynch syndrome: how aggressive? Am J Gastroenterol 1994, 89:1978-1980.
26. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, et al.: Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002, 45:1588-1594.
27. Renkonen-Sinisalo L, Sipponen P, Aarnio M, et al.: No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol 2002, 37:574-577.
28. Planck M, Ericson K, Piotrowska Z, et al.: Microsatellite instability and expression of MLH1 and MSH2 in carcinomas of the small intestine. Cancer 2003, 97:1551-1557.
29. Half EE, Bresalier RS: Clinical management of hereditary colorectal cancer syndromes. Curr Opin Gastroenterol 1004, 20:32-42.