Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
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ABSTRACT:
SUBMITTER: Li N
PROVIDER: S-EPMC5761188 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li Na N Rowley Simone M SM Thompson Ella R ER McInerny Simone S Devereux Lisa L Amarasinghe Kaushalya C KC Zethoven Magnus M Lupat Richard R Goode David D Li Jason J Trainer Alison H AH Gorringe Kylie L KL James Paul A PA Campbell Ian G IG
Breast cancer research : BCR 20180109 1
<h4>Background</h4>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 higher breast cancer risk.<h4>Methods</h4>The coding regions and exon-intron ...[more]
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