Common Genetic Variation and Breast Cancer Risk - Past, present, and future.

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Common Genetic Variation and Breast Cancer Risk - Past, present, and future.

Cancer Epidemiol Biomarkers Prev. 2018 Jan 30;:

Authors: Lilyquist J, Ruddy KJ, Vachon CM, Couch FJ

Abstract
Breast cancer is the most common cancer among women in the United States with up to 30% of those diagnosed displaying a family history of breast cancer. To date, 18% of the familial risk of breast cancer can be explained by common single nucleotide polymorphisms (SNPs). This review summarizes the discovery of risk-associated SNPs using candidate gene and genome-wide association studies (GWAS), including discovery and replication in large collaborative efforts such as COGS and OncoArray. We discuss the evolution of GWAS studies, efforts to discover additional SNPs, and methods for identifying causal variants. We summarize findings associated with overall breast cancer, pathologic subtypes, and mutation carriers (BRCA1, BRCA2, and CHEK2). In addition, we summarize the development of polygenic risk scores (PRS) using the risk-associated SNPs and show how PRS can contribute to estimation of individual risks for developing breast cancer.

PMID: 29382703 [PubMed - as supplied by publisher]

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