부산대학교 도서관

OBJECTIVES: Previously described prevalence of BRCA mutated OC is 14% for germline BRCA mutations (gBRCA), that could increase to 20% considering somatic BRCA mutations (sBRCA). Latinamerican population is a paradigm of poly-ethnicity and ancestries and the prevalence of BRCAm is unknown.FLABRA is a cross-sectional, multi-center study designed to determine the prevalence of BRCAm, either sBRCA or gBRCA in high grade serous OC LA patients, with a new approach of start testing in tumor. We also aimed to describe current genetic counselling and treatment approach at frontline in this population. METHODS: We enrolled 407 patients from Argentina, Brazil, Colombia, Mexico, Peru and Panama, diagnosed with OC within the last 120 days. Archived tumor blocks or 10-µm sections were used for BRCA testing in tissue (Myriad Tumor BRACAnalysis CDx™). Patients who were positive in tumor, were analysed in blood to determine if the mutation was from germline (Myriad Single Site BRACAnalysis®). In gBRCA, genetic counseling was advised. Patients medical records were reviewed for data relevant to medical history, OC diagnosis, counseling approach, and treatment plan. RESULTS: Results from first 376 patients who already completed the study: BRCA mutations prevalence detected in tumor was 30%.(Table is included in full-text article.) CONCLUSIONS: Our data show a high prevalence of sBRCAM and gBRCAM in LA OC pts. Additionally, this new approach of start testing the tumor may prove to be more cost effective, leading to a more conclusive result; so refinement of this technique is a must. The high prevalence of sBRCAM in certain regions of LA needs to be further investigated.