DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

B Pardini; A Corrado; E Paolicchi; G Cugliari; SI Berndt; S Bezieau; SA Bien; H Brenner; BJ Caan; PT Campbell; G Casey; AT Chan; J Chang-Claude; M Cotterchio; M Gala; SJ Gallinger; RW Haile; TA Harrison; RB Hayes; M Hoffmeister; JL Hopper; L Hsu; J Huyghe; MA Jenkins; L Le Marchand; Y Lin; NM Lindor; H Nan; PA Newcomb; S Ogino; JD Potter; RE Schoen; ML Slattery; E White; L Vodickova; V Vymetalkova; P Vodicka; F Gemignani; U Peters; A Naccarati; S Landi

Journal article

DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility

B Pardini, A Corrado, E Paolicchi, G Cugliari, SI Berndt, S Bezieau, SA Bien, H Brenner, BJ Caan, PT Campbell, G Casey, AT Chan, J Chang-Claude, M Cotterchio, M Gala, SJ Gallinger, RW Haile, TA Harrison, RB Hayes, M Hoffmeister Show all

International Journal of Cancer | WILEY | Published : 2020

DOI: 10.1002/ijc.32516

Abstract

Interindividual differences in DNA repair systems may play a role in modulating the individual risk of developing colorectal cancer. To better ascertain the role of DNA repair gene polymorphisms on colon and rectal cancer risk individually, we evaluated 15,419 single nucleotide polymorphisms (SNPs) within 185 DNA repair genes using GWAS data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), which included 8,178 colon cancer, 2,936 rectum cancer cases and 14,659 controls. Rs1800734 (in MLH1 gene) was associated with colon cancer risk (p-value = 3.5 × 10−6) and rs2189517 (in RAD51B) with rectal cancer risk (p-value = 5.7 × 1..

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