Breast Cancer Genome-Wide Association Studies: The End of the Beginning?
Join us on Wednesday, November 5 for the Epidemiology Seminar Series, featuring Dr. Peter Kraft discussing Breast Cancer Genome-Wide Association Studies: The End of the Beginning?
Abstract: Breast cancer clusters in families, but rare, high risk pathogenic variants in known genes like BRCA1 and BRCA2 explain only a small proportion of this familial aggregation. Genome-wide association studies (GWAS) have identified over 150 independent common variants associated with breast cancer incidence, but more risk variants remain to be found, in part because of the limited diversity of published GWAS. I describe the Confluence Project (https://confluence.cancer.gov/), a collaboration among multiple international consortia to conduct a breast cancer GWAS in over 450,000 cases and 1,300,000 controls, approximately tripling the overall sample size of the largest breast cancer GWAS to date and quadrupling the sample size in previously undersampled genetic ancestry groups. I discuss governance, computing, and analytic issues raised by such large and diverse data, including approaches to conducting multi-ancestry GWAS and fine-mapping analyses. I also discuss the opportunities provided by integrating well-powered GWAS with emerging experimental genomic annotations and multimodal pathological characterization of tumors. Separately, I provide an update on the Connect for Cancer Prevention Cohort (https://www.cancer.gov/connect-prevention-study/) and its plans for broad data sharing.
Bio: Dr. Kraft is the Director of the Trans-Divisional Research Program in the NCI’s intramural Division of Cancer Epidemiology and Genetics. He provides strategic leadership to transdisciplinary research teams across the Division, helping identify and shape new research opportunities and oversees data platforms and tools that enable collaboration. Dr. Kraft’s research focuses on devising and applying statistical techniques to large-scale observational studies of genetic and circulating biomarkers, with particular emphasis on studies understanding the joint contribution of germline DNA variation, environmental exposures and biomarkers to risk of complex disease. He has contributed to multiple international consortia studying genetics and other exposures in relation to cancer risk over the last twenty years. Prior to joining DCEG, Dr. Kraft was Professor of Epidemiology and Biostatistics at the Harvard T.H. Chan School of Public Health from 2003-2023. He remains an Adjunct Professor of Epidemiology at the Harvard Chan School.
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Peter Kraft, PhD
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