Journal article
Prevalence and penetrance of major genes and polygenes for colorectal cancer
AK Win, MA Jenkins, JG Dowty, AC Antoniou, A Lee, GG Giles, DD Buchanan, M Clendenning, C Rosty, DJ Ahnen, SN Thibodeau, G Casey, S Gallinger, L Le Marchand, RW Haile, JD Potter, Y Zheng, NM Lindor, PA Newcomb, JL Hopper Show all
Cancer Epidemiology Biomarkers and Prevention | Published : 2017
Abstract
Background: Although high-risk mutations in identified major susceptibility genes (DNA mismatch repair genes and MUTYH) account for some familial aggregation of colorectal cancer, their population prevalence and the causes of the remaining familial aggregation are not known. Methods: We studied the families of 5,744 colorectal cancer cases (probands) recruited from population cancer registries in the United States, Canada, and Australia and screened probands for mutations in mismatch repair genes and MUTYH. We conducted modified segregation analyses using the cancer history of first-degree relatives, conditional on the proband's age at diagnosis. We estimated the prevalence of mutations in t..
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Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by grant UM1 CA167551 from the National Cancer Institute, NIH, and through cooperative agreements with the following Colon Cancer Family Registry (CCFR) centers: Australasian Colorectal Cancer Family Registry (U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (U01/U24 CA074794), and USC Consortium Colorectal Cancer Family Registry (U01/U24 CA074799). Seattle CCFR research was also supported by the Cancer Surveillance System of the Fred Hutchinson Cancer Research Center, which was funded by contract numbers N01-CN-67009 (1996-2003) and N01-PC-35142 (2003-2010) and contract no. HHSN2612013000121 (2010-2017) from the Surveillance, Epidemiology and End Results (SEER) Program of the National Cancer Institute with additional support from the Fred Hutchinson Cancer Research Center. The collection of cancer incidence data used in this study was supported by the California Department of Public Health as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885; the National Cancer Institute's Surveillance, Epidemiology and End Results Program under contract HHSN261201000035C awarded to the University of Southern California, and contract HHSN261201000034C awarded to the Public Health Institute; and the Centers for Disease Control and Prevention's National Program of Cancer Registries, under agreement U58DP003862-01 awarded to the California Department of Public Health. P.A. Newcomb, M.A. Jenkins, J.G. Dowty, J.L. Hopper, N.M. Lindor, R.J. MacInnis, and Y. Zheng received support for this study by grant R01CA170122 from NIH. M.A. Jenkins, J.L. Hopper, and G.G. Giles received further support from Centre for Research Excellence grant APP1042021 and program grant APP1074383 from National Health and Medical Research Council (NHMRC), Australia. A.K. Win is a NHMRC Early Career Fellow. M.A. Jenkins is an NHMRC Senior Research Fellow. J.L. Hopper is an NHMRC Senior Principal Research Fellow. D.D. Buchanan is a University of Melbourne Research at Melbourne Accelerator Program (R@MAP) Senior Research Fellow. A.C. Antoniou is a Cancer Research UK Senior Research Fellow (C12292/A11174).