Prevalence and penetrance of major genes and polygenes for colorectal cancer

Cancer Epidemiology Biomarkers and Prevention

Volumn 26, Issue 3, 2017, Pages 404-412

  Win, Aung Ko ^a   Jenkins, Mark A ^a   Dowty, James G ^a   Antoniou, Antonis C ^b   Lee, Andrew ^b   Giles, Graham G ^a,c   Buchanan, Daniel D ^a,d   Clendenning, Mark ^d   Rosty, Christophe ^e   Ahnen, Dennis J ^f   Thibodeau, Stephen N ^g   Casey, Graham ^h   Gallinger, Steven ⁱ   Le Marchand, Loc ^j   Haile, Robert W ^k   Potter, John D ^l,m,n   Zheng, Yingye ^l,m   Lindor, Noralane M ^o   Newcomb, Polly A ^l,m   Hopper, John L ^a   MacInnis, Robert J ^a,c   more..

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CANCER EPIDEMIOLOGY CENTRE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^g MAYO CLINIC   (United States)

^h UNIVERSITY OF VIRGINIA   (United States)

ⁱ MOUNT SINAI HOSPITAL   (Canada)

^j UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF WASHINGTON   (United States)

^m Fred Hutchinson Cancer Research Center   (United States)

ⁿ MASSEY UNIVERSITY   (New Zealand)

^o MAYO CLINIC   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA GLYCOSYLASE MUTY; MISMATCH REPAIR PROTEIN PMS2; MUTL PROTEIN HOMOLOG 1; PROTEIN MSH2; PROTEIN MSH6; TUMOR MARKER; DNA GLYCOSYLTRANSFERASE;

ADULT; AGED; ARTICLE; AUSTRALIA; CANADA; CANCER EPIDEMIOLOGY; CANCER GENETICS; CANCER REGISTRY; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; COLORECTAL CANCER; FAMILY HISTORY; FEMALE; FIRST-DEGREE RELATIVE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERMLINE MUTATION; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MAJOR GENE; MALE; MOLECULAR PATHOLOGY; NUCLEAR FAMILY; PENETRANCE; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SIBLING; UNITED STATES; COLORECTAL TUMOR; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; MIDDLE AGED; MISMATCH REPAIR; MULTIFACTORIAL INHERITANCE; MUTATION; RISK FACTOR;

ADULT; AGED; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA MISMATCH REPAIR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; MUTL PROTEIN HOMOLOG 1; PENETRANCE; POPULATION SURVEILLANCE; PREVALENCE; RISK FACTORS;

EID: 85014539980     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-16-0693     Document Type: Article

References (59)

1. Taylor DP, Burt RW, Williams MS, Haug PJ, Cannon-Albright LA. Population-based family history-specific risks for colorectal cancer: a constellation approach. Gastroenterology 2010;138:877-85.
2. Rustgi AK. The genetics of hereditary colon cancer. Genes Dev 2007;21: 2525-38.
3. Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer 2015;15:181-94.
4. Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 exons of TACSTD1. Nat Genet 2009;41:112-7.
5. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009;30:197-203.
6. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253:661-5.
7. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.
8. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
9. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, et al. Inherited variants of MYH associated with somatic G:C T:A mutations in colorectal tumors. Nat Genet 2002;30:227.
10. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, et al. Population-based molecular detection of hereditary nonpolyposis colo-rectal cancer. J Clin Oncol 2000;18:2193-200.
11. Dunlop MG, Farrington SM, Nicholl I, Aaltonen L, Petersen G, Porteous M, et al. Population carrier frequency of hMSH2 and hMLH1 mutations. Br J Cancer 2000;83:1643-5.
12. Terdiman JP. HNPCC: an uncommon but important diagnosis. Gastro-enterology 2001;121:1005-8.
13. de la Chapelle A. The incidence of Lynch syndrome. Fam Cancer 2005;4:233-7.
14. Boland CR, Shike M. Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology 2010;139:2197.
15. Hampel H, de la Chapelle A. The search for unaffected individuals with lynch syndrome: do the ends justify the means? Cancer Prev Res 2011;4:1-5.
16. Song W, Gardner SA, Hovhannisyan H, Natalizio A, Weymouth KS, Chen W, et al. Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification. Genet Med 2016;18:850-4.
17. Aaltonen L, Johns L, Jarvinen H, Mecklin J-P, Houlston R. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res 2007;13:356-61.
18. Jenkins MA, Baglietto L, Dite GS, Jolley DJ, Southey MC, Whitty J, et al. After hMSH2 and hMLH1-what next? Analysis of three-generational, popula-tion-based, early-onset colorectal cancer families. Int J Cancer 2002; 102:166-71.
19. Chubb D, Broderick P, Dobbins SE, Frampton M, Kinnersley B, Penegar S, et al. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Nat Commun 2016;7:11883.
20. Jenkins MA, Makalic E, Dowty JG, Schmidt DF, Dite GS, MacInnis RJ, et al. Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening. Future Oncol 2016;12:503-13.
21. Newcomb PA, Baron J, Cotterchio M, Gallinger S, Grove J, Haile R, et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007;16:2331-43.
22. Colon Cancer Family Registry. Colorectal Cancer Family Registry (Colon CFR) Cohort. Available from: http://coloncfr.org.
23. Colon Cancer Family Registry Questionnaires. Available from: http://coloncfr.org/questionnaires.
24. Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005;23:6524-32.
25. Rumilla K, Schowalter KV, Lindor NM, Thomas BC, Mensink KA, Gallinger S, et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn 2011;13:93-9.
26. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, et al. The clinical phenotype of lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-28.
27. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91.
28. Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, et al. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat 2009; 30:757-70.
29. InSiGHT variant databases. Available from: http://insight-group.org/var-iants/databases/.
30. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, et al. Application of a 5-tiered scheme for standardized classification of 2, 360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 2013;46:107-15.
31. Cleary SP, Cotterchio M, Jenkins MA, Kim H, Bristow R, Green R, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009;136:1251-60.
32. Dowty JG, Win AK, Buchanan DD, Lindor NM, Macrae FA, Clendenning M, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 2013;34:490-7.
33. Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, et al. Risks of lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010;102:193-201.
34. Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 2014;146:1208-11.
35. Lange K. An approximate model of polygenic inheritance. Genetics 1997;147:1423-30.
36. Fernando RL, Stricker C, Elston RC. The finite polygenic mixed model: an alternative formulation for the mixed model of inheritance. Genetics 1994;88:573-80.
37. Curado MP, Edwards B, Shin HR, Storm H, Ferlay J, Heanue M, et al., editors. Cancer incidence in five continents, vol. IX. Lyon, France: International Agency for Research on Cancer; 2007.
38. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009;11:42-65.
39. Akaike H. A new look at the statistical model identification. IEEE Trans Automat Control 1974;19:716-23.
40. Elston R. Models for discrimination between alternative modes of inher-itance. In:Gianola D, Hammond F, editors. Advances in statistical methods for genetic improvement of livestock. Berlin, Germany: Springer; 1990. p.41-55.
41. Antoniou AC, Pharoah PPD, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004; 91:1580-90.
42. Win AK, Hopper JL, Jenkins MA. Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer 2011;10:1-9.
43. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
44. Hopper JL, Mack TM. The heritability of prostate cancer-letter. Cancer Epidemiol Biomarkers Prev 2015;24:878.
45. Hopper JL, Carlin JB. Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am J Epidemiol 1992;136:1138-47.
46. Fisher RA. The correlation between relatives on the supposition of Men-delian inheritance. Transactions of the Royal Society of Edinburgh 1918;52:399-433.
47. MacInnis RJ, Severi G, Baglietto L, Dowty JG, Jenkins MA, Southey MC, et al. Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. PLoS One 2013;8:e54727.
48. Samadder NJ, Smith KR, Mineau GP, Pimentel R, Wong J, Boucher K, et al. Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. Aliment Pharmacol Ther 2015;41:573-80.
49. Jang JH, Cotterchio M, Gallinger S, Knight JA, Daftary D. Family history of hormonal cancers and colorectal cancer risk: a case-control study conducted in Ontario. Int J Cancer 2009;125:918-25.
50. Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HFA, Morreau H, et al. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst 2010;102:1724-30.
51. Watson P, Lin KM, Rodriguez-Bigas MA, Smyrk T, Lemon S, Shashidharan M, et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer 1998;83:259-66.
52. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenter-ology 1996;110:682-7.
53. Mai PL, Garceau AO, Graubard BI, Dunn M, McNeel TS, Gonsalves L, et al. Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst 2011;103:788-97.
54. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511-4.
55. Haidle JL, Howe JR. Juvenile polyposis syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews. Seattle, WA: University of Washington;1993-2017.
56. Mallory SB. Cowden syndrome (multiple hamartoma syndrome). Derma-tol Clin 1995;13:27-31.
57. Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-44.
58. Win AK, Young JP, Lindor NM, Tucker K, Ahnen D, Young GP, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol 2012;30:958-64.
59. Win AK, Hopper JL, Buchanan DD, Young JP, Tenesa A, Dowty JG, et al. Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers? Eur J Cancer 2013;49:1578-87.