<p>The goal of this study is to identify and characterize novel genetic variants associated with a predisposition to breast cancer (BCa) in African Americans (AAs) using a family case-family control study design. Variants of unknown clinical significance (VUS) were characterized using bioinformatics tools. Future studies will further characterize select VUSs using in vitro genomic editing methods and functional assays to determine the functional consequences. The targeted sequencing data is made available for 85 actionable cancer genes. These genes have been previously classified with deleterious mutation(s) and whose phenotype results in a specific, defined medical recommendation(s).</p>

Functional Analysis of Genetic Variants in African Americans with Breast Cancer

Breast cancer genetics in African Americans

BRCA1 mutations in African Americans

Evidence for a BRCA1 founder mutation in families of West African ancestry.

Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases