正文
BRCA2与BRCA1相比，影响更为显著，与欧美人群和非洲人群相反
。此外，该研究还为中国女性乳腺癌
风险评定
和
早期发现
而开展基因检测的性价比提供了证据。
Breast Cancer Res Treat. 2020 Apr 21. [Epub ahead of print]
Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.
Chenjie Zeng, Xingyi Guo, Wanqing Wen, Jiajun Shi, Jirong Long, Qiuyin Cai, Xiao-Ou Shu, Yongbin Xiang, Wei Zheng.
Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA; Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
PURPOSE
: Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data in a population-based case-control study conducted in Shanghai, China.
METHODS
: We evaluated exonic, splicing, and copy number variants in 11 established and 14 candidate breast cancer predisposition genes in 831 invasive breast cancer cases and 839 controls. We identified 55 pathogenic variants, including 15 newly identified in this study.
RESULTS
: Approximately 8% of the cases and 0.6% of the cancer-free controls carried these pathogenetic variants (P=3.05×10-15). Among cases, 3.7% had a BRCA2 pathogenic variant and 1.6% had a BRCA1 pathogenic variant, while 2.5% had a pathogenic variant in other genes including ATM, CHEK2, NBN, NF1, CDH1, PALB2, PTEN, TP53 as well as BARD1, BRIP, and RAD51D. Patients with BRCA1/2 pathogenic variants were more likely to have a family history of breast cancer and hormone receptor negative tumors compared with patients without pathogenic variants.
CONCLUSIONS
: This study highlighted the importance of hereditary breast cancer genes in the breast cancer etiology in this understudied population. Together with previous studies in East Asian women, this study suggested a relatively more prominent role of BRCA2 compared to BRCA1. This study also provides additional evidence to design cost-efficient genetic testing among Chinese women for risk assessment and early detection of breast cancer.
