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Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2

 Kyung Jin Eoh  ;  Ji Eun Kim  ;  Hyung Seok Park  ;  Seung-Tae Lee  ;  Ji Soo Park  ;  Jung Woo Han  ;  Jung-Yun Lee  ;  Sunghoon Kim  ;  Sang Wun Kim  ;  Jae Hoon Kim  ;  Young Tae Kim  ;  , Eun Ji Nam 
 Cancer Research and Treatment, Vol.50(3) : 917-925, 2018 
Journal Title
 Cancer Research and Treatment 
Issue Date
Ethnicity ; Germ-line mutation ; Next-generation sequencing ; Ovarian epithelial cancer ; Prevalence
Purpose: Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of germline mutations in individuals with epithelial ovarian cancer (EOC), using multi-gene panels and NGS. Materials and Methods: Patients with EOC (n=117) with/without a family history of breast or ovarian cancer were recruited consecutively, from March 2016 to December 2016. Germline DNA was sequenced using 35-gene NGS panel, in order to identify mutations. Upon the detection of a genetic alteration using the panel, results were cross-validated using direct sequencing. Results: Thirty-eight patients (32.5%) had 39 pathogenic or likely pathogenic mutations in eight genes, including BRCA1 (n=21), BRCA2 (n=10), BRIP1 (n=1), CHEK2 (n=2), MSH2 (n=1), POLE (n=1), RAD51C (n=2), and RAD51D (n=2). Among 64 patients with a family history of cancer, 27 (42.2%) had 27 pathogenic or likely pathogenic mutations, and six (9.3%) had mutations in genes other than BRCA1/2, such as CHECK2, MSH2, POLE, and RAD51C. Fifty-five patients (47.0%) were identified to carry only variants of uncertain significance. Conclusion: Using the multi-gene panel test, we found that, of all patients included in our study, 32.5% had germline cancer-predisposing mutations. NGS was confirmed to substantially improve the detection rates of a wide spectrum of mutations in EOC patients compared with those obtained with the BRCA1/2 testing alone.
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1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김상운(Kim, Sang Wun) ORCID logo https://orcid.org/0000-0002-8342-8701
김성훈(Kim, Sung Hoon) ORCID logo https://orcid.org/0000-0002-1645-7473
김영태(Kim, Young Tae) ORCID logo https://orcid.org/0000-0002-7347-1052
김재훈(Kim, Jae Hoon) ORCID logo https://orcid.org/0000-0001-6599-7065
김지은(Kim, Jieun)
남은지(Nam, Eun Ji)
박지수(Park, Ji Soo) ORCID logo https://orcid.org/0000-0002-0023-7740
박형석(Park, Hyung Seok) ORCID logo https://orcid.org/0000-0001-5322-6036
어경진(Eoh, Kyung Jin) ORCID logo https://orcid.org/0000-0002-1684-2267
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이정윤(Lee, Jung-Yun) ORCID logo https://orcid.org/0000-0001-7948-1350
한정우(Han, Jung Woo) ORCID logo https://orcid.org/0000-0001-8936-1205
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