Profile of Somatic BRCA1/2 Mutations in High Grade Serous Ovarian Carcinoma
Maria Angeline Christianto1,2*, Grace Ariani1,2
Abstract
Ovarian cancer ranks as the third most prevalent cancer among women, with 70% of these cases classified as high-grade serous ovarian carcinoma (HGSOC). This type is marked by significant genomic instability and the presence of somatic loss-of-function mutations in the BRCA1/2 genes. It is advisable to conduct BRCA testing for patients diagnosed with HGSOC due to its critical role in genetic counseling for both patients and their families, as well as its implications for treatment options. The objective of this study was to analyze the profile of somatic mutations in BRCA1/2 within cases of HGSOC. This research employed a descriptive observational design and a retrospective methodology. The sample consisted of data regarding somatic BRCA1/2 mutation results from HGSOC diagnoses obtained from surgical specimens at the Anatomic Pathology Laboratory of Dr. Soetomo General Academic Hospital in Surabaya in 2022. A total of 11 cases were analyzed. The data collected encompassed the distribution of somatic BRCA1/2 mutations, histopathological diagnoses, age demographics, parity status, and T-stage classification. Out of the 11 cases, 4 exhibited positive BRCA mutations: 1 case had a mutation in BRCA1, while 3 cases showed mutations in BRCA2. The highest rate of somatic BRCA1/2 mutations was observed in the age group of 50-59 years (45.45%). When examining parity, the majority of cases (54.54%) were found in individuals with no previous pregnancies (0 parity). In terms of T-stage distribution, most HGSOC cases were classified at the T3 stage (72.72%). Overall, the incidence of somatic BRCA1/2 mutations in HGSOC at our hospital in 2022 was recorded at 36.36%.
Keywords
cancer; ovarian cancer; somatic BRCA mutation; high grade serous ovarian carcinoma; profile.
Cite This Article
Christianto, M. A., Ariani, G. (2025). Profile of Somatic BRCA1/2 Mutations in High Grade Serous Ovarian Carcinoma. International Journal of Scientific Advances (IJSCIA), Volume 6| Issue 2: Mar-Apr 2025, Pages 341-344 URL: https://www.ijscia.com/wp-content/uploads/2025/04/Volume6-Issue2-Mar-Apr-No.863-341-344.pdf
Volume 6 | Issue 2: Mar – Apr 2025
