1. Recurrent BRCA1 Mutation, but no BRCA2 Mutation, in Vietnamese Patients with Ovarian Carcinoma Detected with Next Generation Sequencing
- Author
-
Ngo Dai Phu, Pham Huy Hoa, Nguyen Trong Binh, Vo Thanh Nhan, Hoang Anh Vu, Le Quang Thanh, Le Thai Khuong, Hoang Thanh Chi, Nguyen Dang Quan, Bui Thi Hong Nhu, and Nguyen Duy Sinh
- Subjects
Adult ,endocrine system diseases ,Adolescent ,Vietnamese ,Biology ,medicine.disease_cause ,Germline ,Cohort Studies ,Exon ,symbols.namesake ,Young Adult ,Ovarian carcinoma ,medicine ,Carcinoma ,Biomarkers, Tumor ,Humans ,skin and connective tissue diseases ,Aged ,Sanger sequencing ,Ovarian Neoplasms ,Mutation ,BRCA1 Protein ,High-Throughput Nucleotide Sequencing ,General Medicine ,Middle Aged ,medicine.disease ,Prognosis ,BRCA1 ,Adenocarcinoma, Mucinous ,BRCA2 ,Cystadenocarcinoma, Serous ,Endometrial Neoplasms ,Serous fluid ,Vietnam ,Case-Control Studies ,Cancer research ,symbols ,Female ,Ovarian cancer ,Follow-Up Studies ,Research Article - Abstract
Background Identification of germline and somatic BRCA1/2 mutations in ovarian cancer is important for genetic counseling and treatment decision making with poly ADP ribose polymerase inhibitors. Unfortunately, data on the frequency of BRCA1/2 mutations in Vietnamese patients are scare. Methods We aim to explore the occurrence of BRCA1/2 mutations in 101 Vietnamese patients with ovarian cancer including serous (n = 58), endometrioid (n = 14), mucinous (n = 24), and clear cell (n = 5) carcinomas. BRCA1/2 mutations were detected from formalin-fixed parafin-embedded tumor samples using the OncomineTM BRCA Research Assay on Personal Genome Machine Platform with Ion Reporter Software for sequencing data analysis. The presence of pathogenic mutations was confirmed by Sanger sequencing. Results We found no BRCA2 mutation in the entire cohort. Four types of pathogenic mutations in BRCA1 (Ser454Ter, Gln541Ter, Arg1751Ter, and Gln1779AsnfsTer14) were detected in 8 unrelated patients (7.9%) belonging to serous and endometrioid carcinoma groups. Except for the c.1360_1361delAG (Ser454Ter) mutation in BRCA1 exon 11 that was somatic, the other mutations in exons 11, 20, and 22 were germline. Interestingly, the recurrent Arg1751Ter mutation in BRCA1 exon 20 appeared in 4 patients, suggesting that this is a founder mutation in Vietnamese patients. Conclusion Mutational analysis of tumor tissue using next generation sequencing allowed the detection of both germline and somatic BRCA1/2 mutations. .
- Published
- 2020