|Education||BS, University of California San Diego|
|Current Position||Medical School|
University of California San Diego
Characterization of BRCA1 and BRCA2 variants of unknown clinical significance
Breast cancer is one of the most common malignancies affecting women in the United States and several factors influence its onset. Hereditary forms of breast cancer comprise approximately 10% to 15% of total cases. The breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, account for the majority of germline mutations in families with a genetic predisposition for developing breast and ovarian cancers. Not surprisingly, since their discovery in the early 1990’s, intense research efforts have focused on elucidating their role in oncogenesis. With the advances in DNA sequencing technology, genetic testing has become increasingly used to determine mutation status for high-risk families. Over a thousand different mutations have been associated with both BRCA1 and 2 and are catalogued in the Breast Cancer Database. Unfortunately, a large number of mutations catalogued for BRCA1/2 are not definitively linked to disease. These genomic aberrations have been termed variants of unknown clinical significance (VUS) and their role in breast carcinogenesis remains unclear. Using somatic cell gene targeting techniques, we hope to develop an improved model to characterize BRCA1/2 VUS as either neutral (benign) or deleterious and bring clarity to BRCA1/2 VUS carriers.