Impact Of Germline Brca Identification On Subsequent Breast Cancer Stage And Therapy: Implications For Routine Screening

1584Background: Screening healthy Ashkenazi Jews (AJ) for germline BRCA1/BRCA2 mutations (gBRCA) is not standard policy, despite high (2.5%) carrier rates. Most carriers are identified only after breast cancer diagnosis. We hypothesized that pre-symptomatic knowledge of carrier status would favorably affect breast cancer stage and management. Methods: We reviewed records of gBRCA carriers who did not undergo risk-reduction mastectomy and were diagnosed with breast cancer between 4/1996-4/2016. Patient age, parity, family history, genotype, screening compliance, method of breast cancer detection, disease characteristics and treatment (breast and axillary surgery, chemotherapy) were compared between carriers whose gBRCA was identified pre-breast cancer vs. post-breast cancer. Results: 165 females with gBRCA and breast cancer were identified, of whom carrier status was determined pre-breast cancer in 45 (27%) and post-breast cancer in 120 (73%); both groups had similar mean age at cancer diagnosis (50.6y vs....