Breast Neoplasms study with CNV Genotypes, SNV (.MAF) + 1 more data on dbGaP (462 participants)

phs003962 — Somatic Mutations and Their Etiological Determinants for Breast Cancer in    African American Women (B-CAUSE Study)

<p>The breast cancer health disparity between women of African ancestry (AA) and European ancestry (EA) remains a major public health challenge in the United States. AA women are afflicted by higher rate of triple-negative breast cancer (TNBC) and bear the highest mortality rate of all populations from the disease. Even within TNBC, some data suggest that AA women have poorer outcomes than EA women. Mounting evidence points to population differences in cancer biology, a fundamental question that remains unsettled. The disparity also manifests in representativeness in tumor sequencing projects, due to the low inclusion of AAs in genomic studies. A recent analysis of <a href="https://www.cancer.gov/ccg/research/genome-sequencing/tcga">The Cancer Genome Atlas (TCGA)</a> data revealed that the number of AA cases sequenced was sufficient only for studying frequently mutated genes (≥10%), and the power was worse for TNBC as a separate disease entity. As a result, the breast tumor mutational landscape elucidated to date is derived mostly from EA cases, and may not necessarily represent AA cancer genomes. Moreover, as discovery potential for new driver genes has come close to a plateau, cancer in AAs derived from distinct genetic and environmental contexts may provide a powerful venue for discovering mutations that are rare in EA cases. This is showcased in recent studies in colon and prostate cancer. Thus, we carried out a collaborative project, B-CAUSE, to characterize the mutational landscape of AA breast cancer genomes by pooling resources from five established studies, including <a href="https://www.cinj.org/research/about-womens-circle-health-study">the Women's Circle of Health Study (WCHS)</a>, the <a href="https://www.bu.edu/bwhs/">Black Women's Health Study (BWHS)</a>, the <a href="https://www.southerncommunitystudy.org/">Southern Community Cohort Study (SCCS)</a>, the Nashville Breast Health Study (NBHS), and the Southern Tri-State Breast Health Study (STSBHS). This effort has created the largest AA-specific breast tumor mutation dataset to date in an efficient manner. The data deposited here are from the whole-exome sequencing (WES) of matched tumor-normal pairs of 462 TNBC in AA women from the B-CAUSE Study. </p>