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Article

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study

1
Department of Laboratory Medicine, Kyung Hee University School of Medicine and Kyung Hee University Medical Center, Seoul 02447, Korea
2
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea
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Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Korea
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Cancer Research Institute, Seoul National University College of Medicine, Seoul 03080, Korea
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Division of Translational Science, Research Institute, National Cancer Center, Goyang 10408, Korea
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Department of Laboratory Medicine, Hospital, National Cancer Center, Goyang 10408, Korea
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Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 06273, Korea
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Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu 41931, Korea
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Genomic Research Center, GC Genome, Yongin 16924, Korea
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Biotechnology Division, BioCore Co. Ltd., Yongin 16954, Korea
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Department of Pathology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea
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Center for Precision Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea
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Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editors: Eladio A. Velasco, Maaike P. G. Vreeswijk and Miguel De la Hoya
Cancers 2021, 13(9), 2192; https://doi.org/10.3390/cancers13092192
Received: 23 March 2021 / Revised: 21 April 2021 / Accepted: 30 April 2021 / Published: 2 May 2021
(This article belongs to the Special Issue Genetic Variants Associated with Breast and Ovarian Cancer Risk)
Although it has been suggested that cancer risk and genetic variation vary by population, there is still a lack of research on non-European populations. In this study, we applied Korean patients as a model to find out the way to conduct BRCA1/2-related clinical studies in non-European populations who do not have as much clinical data as Europeans. The BRCA1/2 variants were classified following the 2015 ACMG standards/guidelines and using a multifactorial probability-based approach. To estimate the additional sample numbers needed to resolve BRCA1/2 unclassified status, we applied a simulation analysis considering population-specific clinical characteristics. In addition, we estimated the risks of breast or ovarian cancer for BRCA1/2 carriers by mutation regions. Data from this study reveal that BRCA1/2 variants in the non-European population are highly specific; therefore, population-specific study is essential for clinical application of treatment or prevention for breast or ovarian cancer.
In this study, we performed a comprehensive analysis of BRCA1/2 variants and associated cancer risk in Korean patients considering two aspects: variants of uncertain significance (VUS) and pathogenic or likely pathogenic variants (PLPVs) in BRCA1 and BRCA2. This study included 5433 Korean participants who were tested for BRCA1/2 genes. The BRCA1/2 variants were classified following the standards/guidelines for interpretation of genetic variants and using a multifactorial probability-based approach. In Korea, 15.8% of participants had BRCA1 or BRCA2 PLPVs. To estimate the additional sample numbers needed to resolve unclassified status, we applied a simulation analysis. The simulation study for VUS showed that the smaller the number of samples, the more the posterior probability was affected by the prior probability; in addition, more samples for BRCA2 VUS than those of BRCA1 VUS were required to resolve the unclassified status, and the presence of clinical information associated with their VUS was an important factor. The cumulative lifetime breast cancer risk was 59.1% (95% CI: 44.1–73.6%) for BRCA1 and 58.3% (95% CI: 43.2–73.0%) for BRCA2 carriers. The cumulative lifetime ovarian cancer risk was estimated to be 36.9% (95% CI: 23.4–53.9%) for BRCA1 and 14.9% (95% CI: 7.4–28.5%) for BRCA2 carriers. View Full-Text
Keywords: BRCA1; BRCA2; breast cancer; ovarian cancer; variants of uncertain significance; cumulative risk BRCA1; BRCA2; breast cancer; ovarian cancer; variants of uncertain significance; cumulative risk
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MDPI and ACS Style

Park, K.-S.; Lee, W.; Seong, M.-W.; Kong, S.-Y.; Lee, K.-A.; Ha, J.-S.; Cho, E.-H.; Han, S.-H.; Park, I.; Kim, J.-W. A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study. Cancers 2021, 13, 2192. https://doi.org/10.3390/cancers13092192

AMA Style

Park K-S, Lee W, Seong M-W, Kong S-Y, Lee K-A, Ha J-S, Cho E-H, Han S-H, Park I, Kim J-W. A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study. Cancers. 2021; 13(9):2192. https://doi.org/10.3390/cancers13092192

Chicago/Turabian Style

Park, Kyung-Sun, Woochang Lee, Moon-Woo Seong, Sun-Young Kong, Kyung-A Lee, Jung-Sook Ha, Eun-Hae Cho, Sung-Hee Han, Inho Park, and Jong-Won Kim. 2021. "A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study" Cancers 13, no. 9: 2192. https://doi.org/10.3390/cancers13092192

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