Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies

Mala Pande, Aron Joon, Abenaa M Brewster, Wei V Chen, John L Hopper, Cathy Eng, Sanjay Shete, Graham Casey, Fredrick Schumacher, Yi Lin, Tabitha A Harrison, Emily White, Habibul Ahsan, Irene L Andrulis, Alice S Whittemore, Esther M John, Aung Ko Win, Enes Makalic, Daniel F Schmidt, Miroslaw K Kapuscinski, Heather M Ochs-Balcom, Steven Gallinger, Mark A Jenkins, Polly A Newcomb, Noralane M Lindor, Ulrike Peters, Christopher I Amos and Patrick M Lynch

PLOS ONE, 2018, vol. 13, issue 4, 1-19

Abstract: Background: Clustering of breast and colorectal cancer has been observed within some families and cannot be explained by chance or known high-risk mutations in major susceptibility genes. Potential shared genetic susceptibility between breast and colorectal cancer, not explained by high-penetrance genes, has been postulated. We hypothesized that yet undiscovered genetic variants predispose to a breast-colorectal cancer phenotype. Methods: To identify variants associated with a breast-colorectal cancer phenotype, we analyzed genome-wide association study (GWAS) data from cases and controls that met the following criteria: cases (n = 985) were women with breast cancer who had one or more first- or second-degree relatives with colorectal cancer, men/women with colorectal cancer who had one or more first- or second-degree relatives with breast cancer, and women diagnosed with both breast and colorectal cancer. Controls (n = 1769), were unrelated, breast and colorectal cancer-free, and age- and sex- frequency-matched to cases. After imputation, 6,220,060 variants were analyzed using the discovery set and variants associated with the breast-colorectal cancer phenotype at P

Date: 2018
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0196245

DOI: 10.1371/journal.pone.0196245

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