BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea
- Affiliated Author(s)
- 김도훈; 조치흠; 권선영; 류남희; 전동석; 이원목; 하정숙
- Alternative Author(s)
- Kim, Do Hoon; Cho, Chi Heum; Kwon, Sun Young; Ryoo, Nam Hee; Jeon, Dong Seok; Lee, Won Mok; Ha, Jung Sook
- Journal Title
- Journal of Gynecologic Oncology
- ISSN
- 2005-0399
- Issued Date
- 2018
- Keyword
- Mutation; Genes; Neoplasms; Ovary; Korea
- Abstract
- Objective:
We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations.
Methods:
All ovarian cancer patients who visited a single institution between September 2015 and April 2017 were included. Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and long-range polymerase chain reaction (PCR) were performed to comprehensively study BRCA1/2. The genetic risk models BRCAPRO, Myriad, and BOADICEA were used to evaluate the mutation analysis.
Results:
In total, 131 patients were enrolled. Of the 131 patients, Sanger sequencing identified 16 different BRCA1/2 small-scale mutations in 20 patients (15.3%). Two novel nonsense mutations were detected in 2 patients with a serous borderline tumor and a large-cell neuroendocrine carcinoma. MLPA analysis of BRCA1/2 in Sanger-negative patients revealed 2 LGRs. The LGRs accounted for 14.3% of all identified BRCA1 mutations, and the prevalence of LGRs identified in this study was 1.8% in 111 Sanger-negative patients. The genetic risk models showed statistically significant differences between mutation carriers and non-carriers. The 2 patients with LGRs had at least one blood relative with breast or ovarian cancer.
Conclusion:
Twenty-two (16.8%) of the unselected ovarian cancer patients had BRCA1/2 mutations that were detected through comprehensive BRCA1/2 genetic testing. Ovarian cancer patients with Sanger-negative results should be considered for LGR detection if they have one blood relative with breast or ovarian cancer. The detection of more BRCA1/2 mutations in patients is important for efforts to provide targeted therapy to ovarian cancer patients.
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