Link of Video Abstract: https://youtu.be/9kem7M9SNWI
Background: Ovarian cancer remains as major problem worldwide. BRCA1 and BRCA2 play a unique role in deoxyribonucleic acid (DNA) damage repair, especially in homologous recombination repair. There are no data on the prevalence of BRCA1 and BRCA2 somatic mutations in the Indonesian population. This study aimed to determine the incidence of BRCA1 and BRCA2 somatic mutations among a cohort of patients with high-grade serous epithelial ovarian cancer, and assess its correlation with clinical characteristics of the cohort.
Methods: This was an analytical observational study of 26 patients admitted to our hospital from 2019 to 2021. Pathological specimens were obtained from the patients and examined for BRCA1 and BRCA2 somatic mutations. Data on clinical characteristics were collected from medical records. Statistical analysis was performed to determine the relationship between BRCA mutation status and clinical characteristics, including age, stage, menopausal status, parity, family history of malignancy, and patient outcomes.
Results: Twenty-six patients with high-grade serous epithelial ovarian cancer were included in the study. Six patients (27% of 22 patients) had BRCA1 and BRCA2 somatic mutations, four did not pass the quality control test, and the remaining tested negative for these mutations. Most patients were over 50 years of age (73%). Additionally, 84% of patients were diagnosed at stage III, and only one patient had a family history of malignancy. At the end of the study, most patients (65%) had died. Statistical analysis showed no significant differences between the clinical characteristics of the groups.
Conclusion: The incidence of BRCA1 and BRCA2 somatic mutations among patients with high-grade serous epithelial ovarian cancer at our hospital during 2019–2021 was 27%. There were no significant differences in the clinical characteristics of those with and without mutations, hence NGS screening following diagnosis establishment may be beneficial in further management plans.