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Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

 Ji Soo Park  ;  Seung-Tae Lee  ;  Eun Ji Nam  ;  Jung Woo Han  ;  Jung-Yun Lee  ;  Jieun Kim  ;  Tae Il Kim  ;  Hyung Seok Park 
 BMC Cancer, Vol.18(1) : 83, 2018 
Journal Title
 BMC Cancer 
Issue Date
Beyond BRCA1/2 ; Breast neoplasms ; Multigene panel ; Hereditary Neoplastic Syndromes ; Next generation sequencing
BACKGROUND: We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes. METHODS: Samples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations. RESULTS: Nine patients (7.5%) had at least one pathogenic or likely pathogenic variant. Ten variants were identified in these patients: TP53 in two patients, PALB2 in three patients, BARD1 in two patients, BRIP1 in two patients, and MRE11A in one patient. We also identified 30 types of 139 variants of unknown significance (VUS). High-penetrance germline mutations, including TP53 and PALB2, tended to occur with high frequency in young (< 35 years) breast cancer patients (4/19, 21.1%) than in those diagnosed with breast cancer at >/=35 years of age (1/101, 1.0%; p = 0.003). CONCLUSIONS: These combined results demonstrate that multigene panels offer an alternative strategy for identifying veiled pathogenic and likely pathogenic mutations in breast cancer susceptibility genes.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김태일(Kim, Tae Il) ORCID logo https://orcid.org/0000-0003-4807-890X
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
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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