Incidence of <i>BRCA1/BRCA2</i> mutations in ovarian cancer and other solid malignancies in Caracas, Venezuela.

Abstract

e23434 Background: Ovarian cancer is the second leading cause of gynecological cancer in the United States (USA), as well as the leading cause of death by gynecological cancer in that country. In Venezuela, in contrast, ovarian cancer represents the third leading cause of gynecological cancer, with one of the lowest mortality rates within the group. It is known that both BRCA1 and BRCA2 gene mutations lead to increased risk of cancer worldwide, however in Venezuela the frequency of these mutations is unknown. We sought to determine the incidence of germline and somatic BRCA 1/2 mutations in patients with several solid tumors, including ovarian cancer, at our single center institution in Caracas (Venezuela), between the years 2017 and 2024. Methods: We reviewed 230 molecular tests (40 tests from germline tests, 190 tests from somatic lines with Next Generation Sequencing) across multiple patients with different solid tumors, including ovarian cancer (excluding breast cancer). Results: We identified a total of 28 patients with mutations in BRCA genes, half of these were found on germline testing and the other half in somatic line testing (14 patients each). From the total pool of patients, 12 had a BRCA1 mutation (42.8%) and the remaining 16 on BRCA2 (57.2%). The vast majority of BRCA 1/2 mutations were found in patients with ovarian cancer (64.2%, n = 18 patients). Of the patients with ovarian cancer, 10 patients had a BRCA1 mutation and the remaining 8 had a BRCA2 mutation. Conclusions: This is the first documented report on the incidence of BRCA mutations conducted in patients with solid tumors in Venezuela. Incidence of BRCA 1/2 mutations by solid tumor type. BRCA1 mutation Number of patients (N) BRCA2 mutation Number of patients (N) Ovary N = 10 Ovary N = 8 Endometrium N = 1 Endometrium N = 2 Bladder N = 1 Bladder N = 2 Stomach N = 0 Stomach N = 2 Biliary Tree N = 0 Biliary Tree N = 2