학술논문
Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
Document Type
article
Author
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; Patrick M Lynch
Source
PLoS ONE, Vol 13, Iss 4, p e0196245 (2018)
Subject
Language
English
ISSN
1932-6203
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