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BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea

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Author(s)
Do-Hoon KimChi-Heum ChoSun Young KwonNam-Hee RyooDong-Seok JeonWonmok LeeJung-Sook Ha
Keimyung Author(s)
Kim, Do HoonCho, Chi HeumKwon, Sun YoungRyoo, Nam HeeJeon, Dong SeokLee, Won MokHa, Jung Sook
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Obstetrics & Gynecology (산부인과학)
Dept. of Pathology (병리학)
Journal Title
Journal of Gynecologic Oncology
Issued Date
2018
Volume
29
Issue
6
Keyword
MutationGenesNeoplasmsOvaryKorea
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.
Keimyung Author(s)(Kor)
김도훈
조치흠
권선영
류남희
전동석
이원목
하정숙
Publisher
School of Medicine (의과대학)
Citation
Do-Hoon Kim et al. (2018). BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea. Journal of Gynecologic Oncology, 29(6), e90–e90. doi: 10.3802/jgo.2018.29.e90
Type
Article
ISSN
2005-0399
Source
https://www.ejgo.org/DOIx.php?id=10.3802/jgo.2018.29.e90
DOI
10.3802/jgo.2018.29.e90
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/41773
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Obstetrics & Gynecology (산부인과학)
1. School of Medicine (의과대학) > Dept. of Pathology (병리학)
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