A retrospective study was performed to document the uptake and extent of surgical intervention in patients with a known mutation in the BRCA1/2 genes and associated outcomes. Data were collected retrospectively on BRCA-positive patients with and without cancer at the time of genetic testing. Our findings were compared to those published in the current literature. Of patients with cancer at testing, 61% chose bilateral mastectomies. Of patients without cancer, 54% chose risk-reducing surgery (RRS) including risk-reducing mastectomy (RRM), risk-reducing salpingo-oophorectomy (RRSO), or both. Time to surgery was significantly shorter to RRSO than to RRM. The literature suggests and our data support that acceptance of RRM in the BRCA-positive population has gradually increased over time. Consistently high rates of RRSO uptake and short intervals from time-of-testing to RRSO demonstrate that RRSO is still more acceptable to this population than RRM.

Genetic testing is important for comprehensive cancer care. Commercial analysis of the BRCA1/2 genes has been available since 1996, and testing for hereditary breast and ovarian cancer syndrome is well established. The National Comprehensive Cancer Network (NCCN) guidelines identify individuals for whom BRCA1/2 analysis is appropriate and define management recommendations for mutation carriers. Despite recommendations, not all who meet NCCN criteria undergo genetic testing. We assess the frequency that individuals meeting NCCN criteria decline BRCA1/2 analysis, as well as factors that affect the decision-making process. A retrospective chart review was performed from September 2013 through August 2014 of individuals who received genetic counseling at the Levine Cancer Institute. A total of 1082 individuals identified through the retrospective chart review met NCCN criteria for BRCA1/2 analysis. Of these, 267 (24.7%) did not pursue genetic testing. Of the Nontested cohort, 59 (22.1%) were disinterested in testing and 108 (40.4%) were advised to gather additional genetic or medical information about their relatives before testing. The remaining 100 (37.5%) individuals were insured and desired to undergo genetic testing but were prohibited by the expense. Eighty five of these 100 patients were responsible for the total cost of the test, whereas the remaining 15 faced a prohibitive copay expense. Financial concerns are a major deterrent to the pursuit of BRCA1/2 analysis among those who meet NCNN criteria, especially in patients diagnosed with breast or ovarian cancer. These findings highlight the need to address financial concerns for genetic testing in this high-risk population.

57 Background: A woman with a known BRCA mutation has a lifetime risk for the development of breast cancer of up to 80%. Carolinas Medical Center cares for approximately 600 breast cancer patients annually with genetic testing offered to those patients whose history meets commonly established criteria. This study seeks to document the follow-up patients with BRCA mutations most commonly undertake at our facility. Methods: This study is a retrospective review of all patients who underwent genetic testing at Carolinas Medical Center and who were found to be positive for a mutation in the BRCA gene. Since 1996 our genetics group has tested 2056 individuals, of these 246 (12%) carry a mutation of the BRCA-1 and/or BRCA-2 gene. 102 of these 246 patients (41%) had no evidence of cancer at the time of genetic testing. 144 of these 246 patients (59%) did carry a diagnosis of cancer at the time of genetic testing. Results: Of the 246 patients who tested positive for a deleterious mutation in the BRCA gene 204 (83%) had documented follow-up after their diagnosis. 140 of those 204 patients (69%) had documented initial follow-up appointments to discuss their diagnosis. 63 patients of the 140 (45%) who sought initial consultation met with a surgeon. 73 of these 140 patients (52%) had their initial consultation with a Gyn/Oncologist. 3 patients had their initial consultation with a medical oncologist and the remaining patient with their primary care physician. Documentation was available for 131 of the 204 patients (64%) in regards to follow up related to their risk of breast cancer development, 129 of those patients were being followed by a high risk breast provider. 126 of the 204 patients (62%) with long term follow-up were being followed by a Gyn/Oncologist secondary to their increased risk for ovarian cancer. This data includes all patients regardless of the decisions they made concerning surveillance or prophylactic surgery. Conclusions: The majority of the patients at Carolinas Medical Center who have tested positive for a BRCA mutation have sought long term follow-up with both a high risk breast provider and a Gyn/Oncologist in regards to their increased risk for the development of both breast and ovarian cancer.