Journal article

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

Sara Lindstroem, Akweley Ablorh, Brad Chapman, Alexander Gusev, Gary Chen, Constance Turman, A Heather Eliassen, Alkes L Price, Brian E Henderson, Loic Le Marchand, Oliver Hofmann, Christopher A Haiman, Peter Kraft

BREAST CANCER RESEARCH | BMC | Published : 2016

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 ..

View full abstract

University of Melbourne Researchers

Grants

Awarded by National Institutes of Health


Awarded by U.S. Department of Defense grant


Awarded by National Human Genome Research Institute


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE


Awarded by NATIONAL INSTITUTE OF MENTAL HEALTH


Funding Acknowledgements

This work was support by National Institutes of Health grants HG005922, CA148065, MH101244, CA182821, CA164973, CA132839, and CA186107 and U.S. Department of Defense grant W81XWH-08-1-0383. We acknowledge The Broad Institute Genomics Platform for expert sequencing and analysis, supported by grant HG003067-13 from the National Human Genome Research Institute (Stacey Gabriel and Eric Lander, principal investigators).