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Prevalence of BRCA1/2 Mutation in High-Grade Non-Mucinous Ovarian Carcinoma
Maria Angeline Christianto1, Grace Ariani1,2
1Department of Anatomical Pathology, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Objective:
Ovarian cancer is the third most common cancer among women with the most common subtype being high-grade ovarian carcinoma (90%), characterized by high genomic instability and somatic loss-of-function variants in BRCA1/2 genes. BRCA testing in patients with Epithelial Ovarian Cancer (EOC) is recommended because of its role in genome counseling, as well as enabling therapeutics. This study aimed to determine the prevalence of somatic BRCA1/2 mutations in high-grade (non-mucinous) ovarian carcinoma cases.
Methods:
This research was a descriptive observational study with a retrospective approach. The sample used data from somatic BRCA1/2 mutation results with a diagnosis of high-grade non-mucinous ovarian carcinoma from surgery specimens at the Anatomic Pathology Laboratory of Dr. Soetomo General Academic Hospital, Surabaya, during 2019-2022. The total number of samples was 49 cases. The collected data includes the distribution of somatic BRCA1/2 mutation cases, histopathological diagnoses, age groups, and T stage.
Result:
Among 49 cases, 9 cases had positive BRCA mutations, with 6 cases positive for BRCA1 mutations and 3 cases positive for BRCA2 mutations, all in HGSOC. No somatic BRCA1/2 mutations were detected in EnOC and OCCC. The highest somatic BRCA1/2 mutation rate occurred in the 50-59 age group. The distribution of cases based on T stage showed that most high-grade (non-mucinous) ovarian carcinomas were at T3 stage (61.22%), particularly in HGSOC (17.86% of BRCA1 and 10.71% of BRCA2 mutation cases).
Conclusion:
The occurrence of somatic BRCA1/2 mutations in high-grade non-mucinous ovarian carcinoma at our hospital from 2019-2022 was 18.37%, all in HGSOC.
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