The follow-up sought after diagnosis of a BRCA-1 or BRCA-2 mutation.

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.