Jiang Zhaoyun, Xu Bing, Sun Bo, Yang Beibei, Lu Su, Li Mengjian, Zhang Juan, Qi Liqiang, Wu Qixi
Beijing USCI Medical Laboratory, Beijing, China.
The 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Future Sci OA. 2025 Dec;11(1):2458432. doi: 10.1080/20565623.2025.2458432. Epub 2025 Apr 1.
We aimed to identify the pathogenic variants of homologous recombination (HR) genes and analyze the correlation between the pathogenic variants and clinical characteristics in Chinese breast cancer patients.
A cohort of 178 breast cancer patients participated in this study. We assessed genomic alterations using a 23-gene panel, which includes most of the HR-related genes and DNA mismatch repair (MMR) gene, through next-generation sequencing. The pathogenicity of variants was determined based on the American College of Medical Genetics and Genomics standards and guidelines. The correlation between these pathogenic variants and the clinical characteristics of the patients was investigated.
26 pathogenic variants, including one novel suspected pathogenic variant, were detected in 28 (15.7%) patients. These variants occurred in 7 HR-related genes: , , , , , and . The frequency of variants was higher in the younger group (8.9%) compared to the older group (2.6%), while the trend was reversed for (3.0% vs. 7.8%). All three patients with the pathogenic variant (p.Lys91fs) in were diagnosed with triple-negative breast cancer.
HR-gene testing in breast cancer could help to find new suspected pathogenic variants and increase the clinical benefit of multi-gene testing for breast cancer.
我们旨在鉴定中国乳腺癌患者中同源重组（HR）基因的致病变异，并分析这些致病变异与临床特征之间的相关性。
178例乳腺癌患者参与了本研究。我们通过二代测序，使用包含大多数HR相关基因和DNA错配修复（MMR）基因的23基因检测板评估基因组改变。变异的致病性根据美国医学遗传学与基因组学学会的标准和指南确定。研究了这些致病变异与患者临床特征之间的相关性。
在28例（15.7%）患者中检测到26个致病变异，包括1个新的疑似致病变异。这些变异发生在7个HR相关基因中： 、 、 、 、 、 和 。 变异在较年轻组（8.9%）中的频率高于较年长组（2.6%），而 变异的情况则相反（3.0%对7.8%）。所有3例携带 基因致病变异（p.Lys91fs）的患者均被诊断为三阴性乳腺癌。
乳腺癌中的HR基因检测有助于发现新的疑似致病变异，并增加乳腺癌多基因检测的临床获益。
