Journal article

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer

Mark A Jenkins, Daniel D Buchanan, John Lai, Enes Makalic, Gillian S Dite, Aung K Win, Mark Clendenning, Ingrid M Winship, Richard B Hayes, Jeroen R Huyghe, Ulrike Peters, Steven Gallinger, Loic Le Marchand, Jane C Figueiredo, Rish K Pai, Polly A Newcomb, James M Church, Graham Casey, John L Hopper

JNCI CANCER SPECTRUM | OXFORD UNIV PRESS | Published : 2021

Abstract

It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for people with inherited pathogenic variants in DNA mismatch repair genes-people with Lynch syndrome. We tested a PRS comprising 107 established single-nucleotide polymorphisms associated with colorectal cancer in European populations for 826 European-descent carriers of pathogenic variants in DNA mismatch repair genes (293 MLH1, 314 MSH2, 126 MSH6, 71 PMS2, and 22 EPCAM) from the Colon Cancer Family Registry, of whom 504 had colorectal cancer. There was no evidence of an association between the PRS and colorectal cancer risk, irrespective of which DNA mismatch repair gen..

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Grants

Awarded by Colon Cancer Family Registry (CCFR) from the National Cancer Institute at the National Institutes of Health


Awarded by National Cancer Institute at the National Institutes of Health


Funding Acknowledgements

The Colon Cancer Family Registry (CCFR, www.coloncfr.org) is supported in part by funding from the National Cancer Institute at the National Institutes of Health (U01 CA167551). Support for case ascertainment was provided in part from the Surveillance, Epidemiology, and End Results (SEER) Program and the following US state cancer registries: AZ, CO, MN, NC, NH; and by the Victoria Cancer Registry (Australia) and Ontario Cancer Registry (Canada). SNP genotyping was supported by funding from the Canadian Cancer Society, the Ontario Ministry of Research and Innovation, and funding from the National Cancer Institute at the National Institutes of Health (U01 CA122839 and R01 CA143247), and by the National Health and Medical Research Council, Australia.