Journal article
Rare variants in the DNA repair pathway and the risk of colorectal cancer
M Matejcic, HA Shaban, MW Quintana, FR Schumacher, CK Edlund, L Naghi, RK Pai, RW Haile, A Joan Levine, DD Buchanan, MA Jenkins, JC Figueiredo, G Rennert, SB Gruber, L Li, G Casey, DV Conti, SL Schmit
Cancer Epidemiology Biomarkers and Prevention | AMER ASSOC CANCER RESEARCH | Published : 2021
Abstract
Background: Inherited susceptibility is an important contributor single variant analysis. Pathway-level association analyses based to colorectal cancer risk, and rare variants in key genes or pathways on the integrative BRI (iBRI) method found extreme evidence of could account in part for the missing proportion of colorectal cancer association with the DNA repair pathway (BFiBRI = 17852.4), heritability. specifically with the nonhomologous end joining (BFiBRI = Methods: We conducted an exome-wide association study 437.95) and nucleotide excision repair (BFiBRI = 36.96) subpathincluding 2,327 cases and 2,966 controls of European ancestry from ways. The iBRI method also identified RPA2, PRKDC,..
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Awarded by National Institutes of Health
Funding Acknowledgements
The Colon Cancer Family Registry (CCFR) was supported by the NCI of the NIH under award number U01 CA167551. Additional support for case ascertainment was provided from the Surveillance, Epidemiology, and End Results (SEER) Program of the NCI and the following U.S. state cancer registries: AZ, CO, MN, NC, NH; and by the Victoria Cancer Registry (Australia) and Ontario Cancer Registry (Canada). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Colon CFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government, any cancer registry, or the Colon CFR. The Kentucky Case-Control Study (KY) was supported by Damon Runyon Cancer Research Foundation Clinical Investigator Award, CI-8 (to L. Li); the Case Center for Transdisciplinary Research on Energetics and Cancer, U54 CA-116867-01 (toL. Li); NCI K22Award, K22CA120545-01 (to L. Li); State of Ohio Biomedical Research and Technology Transfer Commission; and the NCI Award R25 CA094186-06. The Molecular Epidemiology of Colorectal Cancer Study (MECC) was supported by the NCI at the NIH: R01 CA197350, R01 CA81488, P30 CA014089, U19 CA148107 (to S.B. Gruber), and P01 CA196569 and a generous gift from Daniel and Maryann Fong. This work was also supported by the National Human Genome Research Institute at the NIH [T32 HG000040] and the National Institute of Environmental Health Sciences at the NIH [T32 ES013678]. The CCFR acknowledges the generous contributions of their study participants, dedication of study staff, and the financial support from the U.S. NCI, without which this important registry would not exist. We would also like to acknowledge the recipients of the following grants: State of Ohio Biomedical Research and Technology Transfer Commission (to G. Casey), the NCI Award R25 CA094186-06 (to C.L. Thompson), P01 CA196569 (to D.C. Thomas), the National Human Genome Research Institute at the NIH (T32 HG000040, to M. Boehnke), and the National Institute of Environmental Health Sciences at the NIH (T32 ES013678, to W. Gauderman).