Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 439-445

  Stuckless, S ^a   Green, J S ^a   Morgenstern, M ^a   Kennedy, C ^b   Green, R C ^a   Woods, M O ^a   Fitzgerald, W ^c   Cox, J ^c   Parfrey, P S ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c Charles S Curtis Memorial Hospital   (Canada)

Author keywords

Colorectal cancer; Lynch syndrome; Screening; Survival

Indexed keywords

ADULT; AGED; ARTICLE; CANCER RISK; CANCER SCREENING; CANCER SURVIVAL; COLONOSCOPY; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MSH 2 GENE; PRIORITY JOURNAL; SURVIVAL TIME;

AGED; AGED, 80 AND OVER; COLONOSCOPY; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DATA COLLECTION; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN;

EID: 84867626328     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01802.x     Document Type: Article

References (37)

1. de la Chapelle A. The incidence of Lynch Syndrome. Fam Cancer 2005: 4: 233-237.
2. Aaltonen LA, Salovaara R, Kristo P et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998: 338: 1481-1487.
3. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 2009: 76: 1-18.
4. Hampel H, Frankel WL, Martin E et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer. N Engl J Med 2005: 352 (18): 1851-1860.
5. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993: 71: 677-685.
6. Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991: 68: 1109-1112.
7. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995: 64: 430-433.
8. Lynch HT, Lynch JF, Lynch PM, Attard T. Hereditary colorectal cancer syndromes: molecular genetics, genetic counselling, diagnosis and management. Fam Cancer 2008: 7: 27-39.
9. Aarnio M, Sankila R, Pukkala E et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999: 81: 214-218.
10. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003: 348: 919-932.
11. Wheeler JM, Bodmer WF, Mortensen NJ. DNA mismatch repair genes and colorectal cancer. Gut 2000: 47: 148-153.
12. Johnson PM, Gallinger S, McLeod RS. Surveillance colonoscopy in individuals at risk for hereditary nonpolyposis colorectal cancer: An evidence-based review. Dis Colon Rectum 2006: 49 (1): 80-93. Discussion 94-95.
13. Stuckless S, Parfrey PS, Woods MO et al. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer 2007: 6: 1-12.
14. 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.
15. Barrow E, Alduaij W, Robinson L et al. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 2008: 74 (3): 233-242.
16. Lynch HT, Lynch J. Lynch Syndrome: Genetics, natural history, genetic counselling, and prevention. J Clin Oncol 2000: 8: 19s-31s.
17. Vasen HF, Stormorken A, Menko FH et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001: 19: 4074-4080.
18. Hampel H, Stephens JA, Pukkala E et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005: 129: 415-421.
19. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005: 42: 491-496.
20. Ramsoekh D, Wagner A, van Leerdam ME et al. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract 2009: 7: 17.
21. Kopciuk KA, Choi YH, Parkhomenko E et al. Penetrance of HNPCC-related cancers in a retrospective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models. Hered Cancer Clin Pract 2009: 7: 16.
22. Fletcher RH. Colorectal cancer screening on stronger footing. N Eng J Med 2008: 359 (12): 1285-1286.
23. Lindor NM, Petersen GM, Hadley DW et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. JAMA 2006: 296 (12): 1507-1517.
24. Silva RV, Garicochea B, Cotti G, Maranho IC, Cutait R. Hereditary nonpolyposis colorectal cancer identification and surveillance of high-risk families. Clinics 2005: 60 (3): 251-256.
25. Green J, O'Driscoll M, Barnes A et al. Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. Dis Colon Rectum 2002: 45: 1223-1232.
26. 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 (5): 829-834.
27. Stupart DA, Goldberg PA, Algar U, Ramesar R. Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Dis 2009: 11 (2): 126-130.
28. Watkins KE, Way CY, Fiander JJ et al. Lynch syndrome: barriers to and facilitators of screening and disease management. Hered Cancer Clin Pract 2011: 9 (1): 8.
29. de Jong AE, Nagengast FM, Kleibeuker JH et al. What is the appropriate screening protocol in Lynch syndrome? Fam Cancer 2006: 5 (4): 373-378.
30. Vasen HFA, Abdirahman M, Brohet R et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch Syndrome. Gastroenterology 2010: 138 (7): 2300-2306.
31. de Jong AE, Morreau H, van Puijenbroek M et al. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 2004: 126 (1): 42-48.
32. Engel C, Rahner N, Schulmann K et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 2010: 8 (2): 174-182.
33. Hurlstone DP, Karajeh M, Cross SS et al. The role of high magnification-chromoscopic colonoscopy in hereditary nonpolyposis colorectal cancer screening: a prospective "back-to-back" endoscopic study. Am J Gastroenterol 2005: 100 (10): 2167-2173.
34. Lecomte T, Cellier C, Meatchi T et al. Chromoendoscopic colonoscopy for detecting preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndromes. Clin Gastroenterol Hepatol 2005: 3 (9): 897-902.
35. Stoffel EM, Turgeon DK, Stockwell DH et al. Missed adenomas during colonoscopic surveillance in individuals with Lynch syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res 2008: 1 (6): 470-475.
36. East JE, Suzuki N, Stavrinidis M, Guenther T, Thomas HJ, Saunders BP. Narrow band imaging for colonoscopic surveillance in hereditary non-polyposis colorectal cancer. Gut 2008: 57 (1): 65-70.
37. Ramsoekh D, Haringsma J, Werner Poley J et al. A back-to-back comparison of white light video endoscopy with autofluorescence endoscopy for adenoma detection in high-risk subjects. Gut 2010: 59 (6): 785-793.