High risk of colorectal and endometrial cancer in ashkenazi families with the MSH2 A636P founder mutation

Gastroenterology

Volumn 140, Issue 7, 2011, Pages 1919-1926

  Mukherjee, Bhramar ^a   Rennert, Gad ^b   Ahn, Jaeil ^a   Dishon, Sara ^b   Lejbkowicz, Flavio ^b   Rennert, Hedy S ^b   Shiovitz, Stacey ^a   Moreno, Victor ^c,d   Gruber, Stephen B ^a,e,f  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b CARMEL MEDICAL CENTER   (Israel)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e UNIVERSITY OF MICHIGAN   (United States)

^f Molecular Medicine and Genetics   (United States)

Author keywords

Ascertainment Bias; Cancer Risk; Lynch Syndrome; Penetrance

Indexed keywords

ADULT; AGED; ARTICLE; ASHKENAZI JEWS; CANCER SCREENING; CLINICAL GENETICS; COLORECTAL CANCER; CONTROLLED STUDY; DISEASE CARRIER; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY; FEMALE; GENE MUTATION; GENETICS; HAZARD RATIO; HEALTH CARE PERSONNEL; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK PATIENT; HOSPITAL; HUMAN; ISRAEL; JEW; LIFESPAN; MAJOR CLINICAL STUDY; MALE; OUTPATIENT DEPARTMENT; PENETRANCE; POPULATION BASED CASE CONTROL STUDY; PREVALENCE; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

EID: 79958084902     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2011.02.071     Document Type: Article

References (36)

1. H.T. Lynch, and A. de la Chapelle Hereditary colorectal cancer N Engl J Med 348 2003 919 932 (Pubitemid 36298000)
2. N.M. Lindor, G.M. Petersen, and D.W. Hadley Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review JAMA 296 2006 1507 1517 (Pubitemid 44465515)
3. W.D. Foulkes, I. Thiffault, and S.B. Gruber The founder mutation MSH2 (*)1906G - >C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population Am J Hum Genet 71 2002 1395 1412 (Pubitemid 36015893)
4. J.G. Guillem, B.S. Rapaport, and T. Kirchhoff A636P is associated with early-onset colon cancer in Ashkenazi Jews J Am Coll Surg 196 2003 222 225 (Pubitemid 36232066)
5. J.G. Guillem, H.G. Moore, and C. Palmer A636P testing in Ashkenazi Jews Fam Cancer 3 2004 223 227
6. H.F. Vasen, J.P. Mecklin, and P.M. Khan The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 1991 424 425
7. H. Hampel, W.L. Frankel, and E. Martin Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
8. A. Umar, C.R. Boland, and J.P. Terdiman Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268 (Pubitemid 38256271)
9. S. Chen, W. Wang, and S. Lee Prediction of germline mutations and cancer risk in the Lynch syndrome JAMA 296 2006 1479 1487 (Pubitemid 44465512)
10. J. Balmana, D.H. Stockwell, and E.W. Steyerberg Prediction of MLH1 and MSH2 mutations in Lynch syndrome JAMA 296 2006 1469 1478 (Pubitemid 44465511)
11. F. Kastrinos, E.W. Steyerberg, and R. Mercado The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history Gastroenterology 140 2011 73 81
12. M. Aarnio, J.P. Mecklin, and L.A. Aaltonen Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome Int J Cancer 64 1995 430 433 (Pubitemid 26048907)
13. M. Aarnio, R. Sankila, and E. Pukkala Cancer risk in mutation carriers of DNA-mismatch-repair genes Int J Cancer 81 1999 214 218 (Pubitemid 29144749)
14. M.G. Dunlop, S.M. Farrington, and A.D. Carothers Cancer risk associated with germline DNA mismatch repair gene mutations Hum Mol Genet 6 1997 105 110 (Pubitemid 27033972)
15. P. Watson, and H.T. Lynch Cancer risk in mismatch repair gene mutation carriers Fam Cancer 1 2001 57 60
16. H.F. Vasen, J.T. Wijnen, and F.H. Menko Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis Gastroenterology 110 1996 1020 1027 (Pubitemid 26113739)
17. F. Quehenberger, H.F. Vasen, and H.C. van Houwelingen Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment J Med Genet 42 2005 491 496 (Pubitemid 40847237)
18. M.A. Jenkins, L. Baglietto, and J.G. Dowty Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study Clin Gastroenterol Hepatol 4 2006 489 498
19. F. Alarcon, C. Lasset, and J. Carayol Estimating cancer risk in HNPCC by the GRL method Eur J Hum Genet 15 2007 831 836 (Pubitemid 47109041)
20. E. Stoffel, B. Mukherjee, and V.M. Raymond Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome Gastroenterology 137 2009 1621 1627
21. K. Cederquist, M. Emanuelsson, and F. Wiklund Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome Clin Genet 68 2005 533 541 (Pubitemid 41748853)
22. E. Borras, M. Pineda, and I. Blanco MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families Cancer Res 70 2010 7379 7391
23. O. Lavie, S.B. Gruber, and F. Lejbkowicz Gynecologic malignancies in Ashkenazi families with the MSH2 A636P founder mutation Am J Obstet Gynecol 199 2008 148 e13
24. K. Lange, D. Weeks, and M. Boehnke Programs for pedigree analysis: MENDEL, FISHER, and dGENE Genet Epidemiol 5 1988 471 472
25. A. Antoniou, P.D. Pharoah, and S. Narod Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies Am J Hum Genet 72 2003 1117 1130 (Pubitemid 36530000)
26. S. Wacholder, P. Hartge, and J.P. Struewing The kin-cohort study for estimating penetrance Am J Epidemiol 148 1998 623 630 (Pubitemid 28498429)
27. C.B. Begg, I. Orlow, and A.J. Hummer Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample J Natl Cancer Inst 97 2005 1507 1515 (Pubitemid 41631950)
28. N. Chatterjee, and S. Wacholder A marginal likelihood approach for estimating penetrance from kin-cohort designs Biometrics 57 2001 245 252 (Pubitemid 32200163)
29. H.A. Risch, J.R. McLaughlin, and D.E. Cole Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada J Natl Cancer Inst 98 2006 1694 1706 (Pubitemid 44942707)
30. F.M. Giardiello, G.M. Petersen, and S. Piantadosi APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis Gut 40 1997 521 525 (Pubitemid 27204934)
31. F.M. Giardiello, J.D. Brensinger, and M.C. Luce Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene Ann Intern Med 126 1997 514 519 (Pubitemid 27143629)
32. L. Raskin, F. Schwenter, and M. Freytsis Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome Clin Genet 79 2011 512 522
33. H.J. Murff, D.R. Spigel, and S. Syngal Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history JAMA 292 2004 1480 1489 (Pubitemid 39258342)
34. F.S. Douglas, L.C. O'Dair, and M. Robinson The accuracy of diagnoses as reported in families with cancer: a retrospective study J Med Genet 36 1999 309 312 (Pubitemid 29161064)
35. R.H. Sijmons, A.E. Boonstra, and J. Reefhuis Accuracy of family history of cancer: clinical genetic implications Eur J Hum Genet 8 2000 181 186 (Pubitemid 30189861)
36. T.A. Dinh, B.I. Rosner, and J.C. Atwood Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population Cancer Prev Res (Phila) 4 2011 9 22