Pathogenic or likely-pathogenic BRCA variants in Vietnamese ovarian carcinoma: a retrospective analysis of prevalence and pathological insights

  • Nguyen Phan Hoang Dang, Dang Tin, Dang Ngoc Anh, Tran Quang Vu, Huynh Thi Huu Loc, Nguyen Thi Be Phuong, Au Nguyet Dieu, Thai Anh Tu, Doan Thi Phuong Thao, Ngo Thi Tuyet Hanh
Từ khóa: Ovarian carcinoma, BRCA1/2 pathogenic variants, high-grade serous carcinoma, next-generation sequencing, Vietnamese population.

Tóm tắt

   Background: Ovarian cancer is a leading cause of gynecological cancer mortality worldwide, with high-grade serous carcinoma being the most aggressive subtype. Pathogenic variants of the BRCA1 and BRCA2 genes play an important role in the pathogenesis of the disease. Although detailed documentation exists for BRCA variants in specific demographics, knowledge about these variants in Vietnamese patients is still insufficient. This study was conducted to address that knowledge gap.

   Methods: We performed a retrospective observational study at the Ho Chi Minh City Oncology Hospital. The study comprised 84 Vietnamese women diagnosed with ovarian carcinoma, who underwent next-generation sequencing for the BRCA1 and BRCA2 genes from August 2022 to April 2024. Clinical information, such as age at diagnosis and FIGO stage, was documented. Following the 2020 World Health Organization (WHO) Classification of Female Genital Tumors guidelines, we examined histopathological slides and employed additional immunohistochemical staining when necessary to categorize the tumors into specific subtypes of ovarian carcinoma.

   Results: Our cohort’s mean age was 54.5 years (range 18–78), and the majority presented at an advanced stage (60.7% at FIGO IIIC). High-grade serous carcinoma represented 81.5% of the cases. 27.4% (23/84) of the tumors harbored pathogenic or likely pathogenic BRCA variants. We discovered these variants solely in high-grade serous carcinoma, resulting in a statistically significant association (p = 0.02). We noted several recurrent variants, including BRCA1 c.4997dupA, BRCA1 c.5251C>T, and BRCA2 c.1813delA, highlighting possible founder effects or variants specific to the population.

   Conclusion: This study reports a 27.4% prevalence of pathogenic BRCA variants within a cohort of Vietnamese ovarian carcinoma patients. All the pathogenic variants were found within the high-grade serous carcinoma subtype. Our findings emphasize the critical role of BRCA mutations in ovarian cancer pathogenesis, especially in high-grade serous carcinoma.

DOI: 10.59715/pntjmp.4.2.11

điểm /   đánh giá
Phát hành ngày
2025-04-20
In ra
Tập. 4 Số. 2 (2025)
Chuyên mục
Nghiên cứu (Original Research)