Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: An evaluation using modified segregation models

Hereditary Cancer in Clinical Practice

Volumn 7, Issue 1, 2009, Pages

  Kopciuk, Karen A ^a   Choi, Yun Hee ^b   Parkhomenko, Elena ^c   Parfrey, Patrick ^d   McLaughlin, John ^e,f   Green, Jane ^d   Briollais, Laurent ^f  

^a ALBERTA HEALTH SERVICES   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^e Population Studies and Surveillance   (Canada)

^f MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MSH2;

ARTICLE; CANADA; CANCER RISK; COHORT ANALYSIS; COLORECTAL CANCER; ENDOMETRIUM CANCER; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PENETRANCE; PHENOTYPE; RISK ASSESSMENT; SEX DIFFERENCE;

EID: 79551521445     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-7-16     Document Type: Article

References (36)

1. Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber S, Euhus D, Kinzler K, Jass J, Gallinger S, Lindor N, Casey G, Ellis N, Giardiello F, Offit K, Parmigiani G, . the Colon Cancer Family Registry Prediction of germline mutations and cancer risk in the Lynch Syndrome. JAMA 2006, 296(12):1479-1487. 2538673, 17003396, 10.1001/jama.296.12.1479, the Colon Cancer Family Registry.
2. Terespolsky D. Commentary: The MMRpro model accurately predicted the probability of carrying a cancer-susceptibility gene mutation for the Lynch syndrome. ACP J Club 2007, 146(2):53.
3. Green RC, Parfrey PS, Woods MO, Younghusband HB. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. J Natl Cancer Inst 2009, 101(5):331-40. 10.1093/jnci/djn499, 19244167.
4. Lynch H, Lynch J, Lynch P, Attard T. Hereditary colorectal cancer syndromes: molecular genetics, genetic counselling, diagnosis and management. Fam Cancer 2008, 7:27-39. 10.1007/s10689-007-9165-5, 17999161.
5. Järvinen H, Mecklin J, Sistonen P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995, 108(5):1405-11. 10.1016/0016-5085(95)90688-6, 7729632.
6. Vasen H. Review article: the Lynch syndrome (hereditary nonpolyposis colorectal cancer). Aliment Pharmacol Ther 2007, 26 Suppl 2:113-126. 18081655.
7. Green J, O'Driscoll M, Barnes A, Maher ER, Bridge P, Shields K, Parfrey PS. 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(9):1223-1232. 12352241, 10.1007/s10350-004-6397-4.
8. Reference GH. Lynch Syndrome. Internet 2008, Cited June 12, 2009., http://ghr.nlm.nih.gov/condition=lynchsyndrome
9. Choi Y, Kopciuk K, Briollais L. Estimating disease risk associated with mutated genes in family-based designs. Hum Hered 2008, 66:238-251. 10.1159/000143406, 18612208.
10. Kraft P, Thomas DC. Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods. Am J Hum Genet 2000, 66:1119-1131. 1288146, 10712222, 10.1086/302808.
11. Parfrey P, Davidson W, Green J. Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney Int 2002, 61:1925-34. 10.1046/j.1523-1755.2002.00305.x, 12028433.
12. Merner N, Hodgkinson K, Haywood A, Connors S, French V, Drenckhahn J, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett A, Parfrey P, Young T. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008, 82:809-21. 2427209, 18313022, 10.1016/j.ajhg.2008.01.010.
13. Parfrey P, Bear J, Morgan J, Cramer B, McManamon P, Gault M, Churchill D, Singh M, Hewitt R, Somlo S, et al. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 1990, 323:1085-90.
14. Stuckless S, Parfrey P, Woods M, Cox J, Fitzgerald G, Green J, Green R. The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer 2007, 6:1-12. 10.1007/s10689-006-0014-8, 17039271.
15. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen L, de la Chapelle A, Peltomäki P, Mecklin J, Järvinen H. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999, 81:214-218. 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L, 10188721.
16. Lin K, Shashidharan M, Thorson A, Ternent C, Blatchford G, Christensen M, Watson P, Lemon S, Franklin B, Karr B, Lynch J, Lynch H. Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 1998, 2:67-71. 10.1016/S1091-255X(98)80105-4, 9841970.
17. Vasen H, Wijnen J, Menko F, Kleibeuker J, Taal C, Griffioen G, Nagengast F, Meijers-Heijboer E, Bertario L, Varesco L, Bisgaard M, Mohr J, Fodde R, Khan P. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996, 110(4):1020-1027. 10.1053/gast.1996.v110.pm8612988, 8612988.
18. Dunlop M, Farrington S, Carothers A, Wyllie A, Sharp L, Burn J, Liu B, Kinzler K, Vogelstein B. Cancer risk associated with germline DNA mismatch repair mutations. Hum Mol Genet 1997, 6:105-110. 10.1093/hmg/6.1.105, 9002677.
19. Chen S, Wang W, Browman K, Katk H, Parmigiani G. BayesMendel: an R enviroment for Mendelian risk prediction. Stat Appl Genet Mol Biol 2004, 3:Article21. 16646800, 10.2202/1544-6115.1063, 2274007.
20. Kaplan E, Meier P. Nonparametric estimation from incomplete observations. J Amer Statist Assoc 1958, 53:457-481.
21. Thomas DC. Statistical Methods in Genetic Epidemiology 2004, New York, Oxford University Press.
22. Lawless JF. Statistical Models and Methods for Lifetime Data 2003, Hoboken, John Wiley and Sons Inc, Second.
23. Jenkins MA, Baglietto L, Dowty JG, Van Vliet CM, Smith L, Mead LJ, Macrae FA, St John DJ, Jass JR, Giles GG, Hopper JL, Southey MC. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 2006, 4:489-498. 10.1016/j.cgh.2006.01.002, 16616355.
24. Cox DR, Hinkley DV. Theoretical Statistics 1974, New York, Chapman and Hall.
25. Carayol J, Bonaïti-Pellié C. Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset. Genet Epidemiol 2004, 27:109-117. 10.1002/gepi.20007, 15305327.
26. Ewens W, Shute N. A resolution of the ascertainment sampling problem. I. Theory. Theor Popul Biol 1986, 30(3):388-412. 3810507, 10.1016/0040-5809(86)90042-0.
27. Hodge S. Conditioning on subsets of the data: Application to ascertainment and other genetic problems. Am J Hum Genet 1988, 43:364-373. 1715504, 3177379.
28. Lange K, Sinsheimer J, Sobel E. Association testing with Mendel. Genet Epidemiol 2005, 29:36-50. 10.1002/gepi.20073, 15834862.
29. Aarnio M, Mecklin J, Aaltonen L, Nystrom-Lahti M, Jarvinen H. Life-time risk of different cancers in HNPCC syndrome. Int J Cancer 1995, 64:430-433. 10.1002/ijc.2910640613, 8550246.
30. Froggart N, Green J, Brassett C, Evans D, Bishop D, Kolodner R, Maher E. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer risk. J Med Genet 1999, 36:97-102. 1734294, 10051005.
31. Vasen H, Stormorken A, Menko F, Nagengast F, Kleibeuker J, Griffioen G, 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.
32. Parc Y, Boisson C, Thomas G, Olschwang S. Cancer risk in 348 French MSH2 or MLH1 gene carriers. J Med Genet 2003, 40:208-213. 1735402, 12624141, 10.1136/jmg.40.3.208.
33. Quehenberger F, Vasen H, van Houwelingen H. 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. 1736072, 15937084, 10.1136/jmg.2004.024299.
34. Hampel H, Stephens J, Pukkala E, Sankila R, Aaltonen L, Mecklin J, de la Chapelle A. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005, 129:415-21.
35. Barrow S, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, Hill J, DG E. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival, tumor distribution. A report on 121 families with proven mutations. Clin Genet 2008, 74(3):233-242. 10.1111/j.1399-0004.2008.01035.x, 18554281.
36. Alarcon F, Lasset C, Carayol J, Bonadona V, Perdry H, Desseigne F, Wang Q, Bonaïti-Pellié C. Estimating cancer risk in HNPCC by the GRL method. Eur J Hum Genet 2007, 15(8):831-836. 10.1038/sj.ejhg.5201843, 17473834.