A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study
- Author(s)
- Kyung-Sun Park; Woochang Lee; Moon-Woo Seong; Sun-Young Kong; Kyung-A Lee; Jung-Sook Ha; Eun-Hae Cho; Sung-Hee Han; Inho Park; Jong-Won Kim
- Keimyung Author(s)
- Ha, Jung Sook
- Department
- Dept. of Laboratory Medicine (진단검사의학)
- Journal Title
- Cancers (Basel)
- Issued Date
- 2021
- Volume
- 13
- Issue
- 9
- Keyword
- BRCA1; BRCA2; breast cancer; ovarian cancer; variants of uncertain significance; cumulative risk
- Abstract
- 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.
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