Article
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Breast cancer research : BCR - 9 Jan 2018
Li Na, Rowley Simone M, Thompson Ella R, McInerny Simone, Devereux Lisa, Amarasinghe Kaushalya C, Zethoven Magnus, Lupat Richard, Goode David, Li Jason, Trainer Alison H, Gorringe Kylie L, James Paul A, Campbell Ian G
Abstract excerpt
BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated with small increases in breast cancer risk. Studies to date suggest that some SNPs alter the expression of the associated genes, which potentially mediates risk modification. On this basis, we hypothesised that some of these genes may be enriched for rare coding variants associated with a...
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