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BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients

Authors
 Kyung Jin Eoh  ;  Ji Soo Park  ;  Hyung Seok Park  ;  Seung-Tae Lee  ;  Jeongwoo Han  ;  Jung-Yun Lee  ;  Sang Wun Kim  ;  Sunghoon Kim  ;  Young Tae Kim  ;  Eun Ji Nam 
Citation
 Gynecologic Oncology, Vol.145(1) : 137-141, 2017 
Journal Title
 Gynecologic Oncology 
ISSN
 0090-8258 
Issue Date
2017
MeSH
Adenocarcinoma, Clear Cell/genetics* ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/genetics* ; Breast Neoplasms/genetics ; Carcinoma, Endometrioid/genetics* ; Decision Support Techniques ; Female ; Genes, BRCA1* ; Genes, BRCA2* ; Genetic Predisposition to Disease ; Genetic Testing ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/epidemiology ; Hereditary Breast and Ovarian Cancer Syndrome/genetics* ; Humans ; Middle Aged ; Models, Theoretical ; Mutation* ; Neoplasms, Cystic, Mucinous, and Serous/genetics* ; Ovarian Neoplasms/genetics* ; Probability ; ROC Curve ; Republic of Korea ; Risk Assessment
Keywords
BRCA1 ; BRCA2 ; BRCAPRO ; Myriad BRCA risk calculator ; Risk models
Abstract
OBJECTIVE: To evaluate the predictive efficacies including sensitivity and positive predictive value of the genetic risk prediction model BRCAPRO and the Myriad BRCA risk calculator in Korean ovarian cancer patients. METHODS: Individuals undergoing genetic testing for BRCA mutations from November 2010-August 2016 were recruited from the Department of Obstetrics and Gynecology at a single institute in Korea. The observed BRCA1 and BRCA2 mutation statuses were compared with the predicted carrier probabilities using BRCAPRO and the Myriad BRCA risk calculator. RESULTS: Two hundred thirty-two patients were recruited, of whom 99.1% (230/232) were of Korean ethnicity. Of the 232 individuals, 206 and 26 had ovarian and double primary breast/ovarian cancer, respectively. Thirty-six individuals had a family history of breast/ovarian cancer in first-degree relatives. Fifty-seven patients (24.6%) tested positive for BRCA mutation (41 BRCA1, 16 BRCA2). The mean BRCAPRO and Myriad scores for all patients were 6.4% and 7.7%, respectively. The scores were significantly higher for patients with positive BRCA mutation status (29.0% vs. 6.1%, P<0.001, 12.1% vs. 7.7%, P<0.001, respectively). For all patients, the respective areas under the receiver operating characteristics curves were 0.720 and 0.747 for the BRCAPRO and Myriad models to predict the risk of carrying a BRCA mutation. Both models overestimated the mutation probability in patients with a family history of breast/ovarian cancer (1.55-fold and 1.50-fold, respectively) and underestimated the probability in patients without a family history (both, 0.54-fold). CONCLUSION: BRCAPRO and Myriad seem to be acceptable risk assessment tools for determining the risk of carrying BRCA mutations in Korean ovarian cancer patients.
Full Text
http://www.sciencedirect.com/science/article/pii/S0090825817300707
DOI
10.1016/j.ygyno.2017.01.026
Appears in Collections:
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
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
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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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/153877
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