Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

AK Win; JL Hopper; DD Buchanan; JP Young; A Tenesa; JG Dowty; GG Giles; J Goldblatt; I Winship; A Boussioutas; GP Young; S Parry; JA Baron; D Duggan; S Gallinger; PA Newcomb; RW Haile; LL Marchand; NM Lindor; MA Jenkins

Journal article

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

AK Win, JL Hopper, DD Buchanan, JP Young, A Tenesa, JG Dowty, GG Giles, J Goldblatt, I Winship, A Boussioutas, GP Young, S Parry, JA Baron, D Duggan, S Gallinger, PA Newcomb, RW Haile, LL Marchand, NM Lindor, MA Jenkins

European Journal of Cancer | Published : 2013

DOI: 10.1016/j.ejca.2013.01.029

Abstract

Background: Genome-wide association studies have identified at least 15 independent common genetic variants associated with colorectal cancer (CRC) risk. The aim of this study was to investigate whether 11 of these variants are associated with CRC risk for carriers of germline mutations in DNA mismatch repair (MMR) genes. Methods: A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q..

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University of Melbourne Researchers

Aung Ko Win Author

Daniel Buchanan Author

James Dowty Author

Graham Giles Author

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COMPREHENISVE MODEL FOR COLORECTAL CANCER RISK

I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by study..

Grants

Awarded by National Institutes of Health

Funding Acknowledgements

This work was supported by the National Cancer Institute, National Institutes of Health under RFA #CA-95-011 and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators. Collaborating centres include Australasian Colorectal Cancer Family Registry (U01 CA097735), Familial Colorectal Neoplasia Collaborative Group (U01 CA074799) [USC], Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800), Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783), Seattle Colorectal Cancer Family Registry (U01 CA074794) and University of Hawaii Colorectal Cancer Family Registry (U01 CA074806). A. K. W. is supported by the Picchi Brothers Foundation Cancer Council Victoria Cancer Research Scholarship, Australia. M.A.J. is an NHMRC Senior Research Fellow. J.L.H. is an NHMRC Australia Fellow. J.P.Y. is a Cancer Council Queensland Senior Research Fellow.