Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population
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ORIGINAL ARTICLE
Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population Dan Li1,2 · Yujian Shi2 · Ang Li2 · Dandan Cao3 · Huijun Su2 · Haiqi Yang2 · Qihuan Zhi2 · Yuchen Yang2 · Zhaoji Lan2 · Tianliangwen Zhou2 · Xiaobin You2 · Guifang Hu1 Received: 17 February 2020 / Accepted: 8 June 2020 © The Japanese Breast Cancer Society 2020
Abstract Background The accurate interpretation of BRCA1/2 variants becomes increasingly important in breast cancer and other related cancers including ovarian cancer, prostate cancer, pancreatic cancer and so forth. In the past decades, especially before year 2015, limitations of techniques and lack of databases and guidelines have led to possible misinterpretation of the clinical significance of sequence variants of BRCA1/2. A published study reported reclassification of some BRCA1/2 variants previously classified as variants of uncertain significance (VUS) to likely pathogenic in breast or ovarian cancer patients from Korea. However, little is known about the situation in Chinese population. Methods We retrospectively retrieved 109 publications studying about BRCA1/2 variants of Chinese population from the year 1999 to year 2019 (March). After excluding publications of meta-analysis and publications with missing data, 72 publications were eventually retained for subsequent analysis. In total, 1,351 BRCA variants (673 BRCA1 variants and 678 BRCA2 variants) derived from 42,430 Chinese cancer patients were standardized and reinterpreted using ACMG/AMP 2015 guidelines and China Expert Consensus on BRCA variant interpretation by genetic counselors. Results Among the 1,351 BRCA variants, the majority of interpretation (91.7%, 1,239/1,351) remained the same as previously published. However, there were 112 (8.3%, 112/1,351) variants (64 BRCA1, 48 BRCA2) reclassified with different categories. Conclusions Our results demonstrated that clinical significance of not only VUS, but also pathogenic/likely pathogenic variants varied from time to time in the Chinese population. Precise reinterpretation of BRCA1/2 variants is of crucial importance to genetic counseling or clinical decision-making for risk individuals or patients. Keywords Reinterpretation · Reclassification · BRCA · Breast cancer
Introduction Dan Li, Yujian Shi, Ang Li and Dandan Cao contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12282-020-01119-7) contains supplementary material, which is available to authorized users. * Guifang Hu [email protected] 1
Guangdong Provincial Key Laboratory of Tropical Disease Research, Department of Epidemiology, School of Public Health, Southern Medical University, Guangzhou 510515, Guangdong, China
2
Top Gene Tech (Guangzhou) Co., Ltd., Guangzhou, China
3
Shenzhen Key Laboratory of Fertility Regulation, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China
Nowadays, breast cancer is the most common cancer among Chinese women, with 304,000 newly di
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