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Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.

Authors
 Ji Soo Park  ;  Seung-Tae Lee  ;  Jung Woo Han  ;  Tae Il Kim  ;  Eun Ji Nam  ;  Hyung Seok Park 
Citation
 Clinical Breast Cancer, Vol.18(5) : 362-373, 2018 
Journal Title
 Clinical Breast Cancer 
ISSN
 1526-8209 
Issue Date
2018
Keywords
BRC repeats ; BRCA ; BRCT ; Parity ; Risk factor
Abstract
INTRODUCTION: We investigated the relative risk of breast and ovarian cancers related to the putative functional domain regions, obesity, and parity among Korean BRCA1/2 mutation carriers. PATIENTS AND METHODS: We analyzed the clinical characteristics, cancer history, and mutations according to the putative functional domain of BRCA proteins among 229 women with BRCA1/2 mutations who were treated at Yonsei Cancer Center, Severance Hospital between January 2009 and March 2017. RESULTS: Twenty-two carriers (18.8% of 117 BRCA1 mutation carriers) with mutations located in the BRCT domain region had a higher risk of breast cancers (hazard ratio [HR], 2.851; 95% confidence interval [CI], 1.614-5.039; P < .001) than those with mutations outside of the putative functional domains of BRCA1. The risk of ovarian cancer was increased in 13 (11.6%) of 112 BRCA2 mutation carriers, with mutations located on BRC repeat regions (HR, 3.129; 95% CI, 1.123-8.720; P = .029). The term-pregnancies number was a significant risk-reducing factor for breast cancers in BRCA1 mutation carriers (HR per pregnancy, 0.640; 95% CI, 0.508-0.806; P < .001), for breast cancers in BRCA2 mutation carriers (HR per pregnancy, 0.534; 95% CI, 0.419-0.681; P < .001), and for ovarian cancers for BRCA1 mutation carriers (HR per pregnancy, 0.625; 95% CI, 0.474-0.824; P = .001). CONCLUSION: Among Korean women with the BRCA1/2 mutation, the location of the mutations may influence the risk of breast and ovarian cancers according to the putative functional domain regions. Further investigations are required for risk prediction and preventive strategies in the BRCA1/2 mutation carriers.
Full Text
https://www.sciencedirect.com/science/article/pii/S1526820917307851
DOI
10.1016/j.clbc.2018.02.007
Appears in Collections:
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
한정우(Han, Jung Woo) ORCID logo https://orcid.org/0000-0001-8936-1205
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/165312
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