Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities.

ABSTRACT:

Background

Although genome-wide association studies (GWASs) have identified thousands of disease susceptibility regions, the underlying causal mechanism in these regions is not fully known. It is likely that the GWAS signal originates from one or many as yet unidentified causal variants.

Methods

Using next-generation sequencing, we characterized 12 breast cancer susceptibility regions identified by GWASs in 2288 breast cancer cases and 2323 controls across four populations of African American, European, Japanese, and Hispanic ancestry.

Results

After genotype calling and quality control, we identified 137,530 single-nucleotide variants (SNVs); of those, 87.2 % had a minor allele frequency (MAF) <0.005. For SNVs with MAF >0.005, we calculated the smallest number of SNVs

SUBMITTER: Lindstrom S 

PROVIDER: S-EPMC5097387 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature