Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes
Purpose 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.Methods A cohort of 178 breast cancer patients participated in this study. We assesse...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Future Science OA |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/20565623.2025.2458432 |
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| author | Zhaoyun Jiang Bing Xu Bo Sun Beibei Yang Su Lu Mengjian Li Juan Zhang Liqiang Qi Qixi Wu |
| author_facet | Zhaoyun Jiang Bing Xu Bo Sun Beibei Yang Su Lu Mengjian Li Juan Zhang Liqiang Qi Qixi Wu |
| author_sort | Zhaoyun Jiang |
| collection | DOAJ |
| description | Purpose 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.Methods 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.Results 26 pathogenic variants, including one novel suspected pathogenic variant, were detected in 28 (15.7%) patients. These variants occurred in 7 HR-related genes: BRCA1, BRCA2, PALB2, RAD51D, RAD50, BRIP1, and ATM. The frequency of BRCA1 variants was higher in the younger group (8.9%) compared to the older group (2.6%), while the trend was reversed for BRCA2 (3.0% vs. 7.8%). All three patients with the pathogenic variant (p.Lys91fs) in RAD51D were diagnosed with triple-negative breast cancer.Conclusions 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. |
| format | Article |
| id | doaj-art-0409c89acc454d89926e384fa4994fca |
| institution | OA Journals |
| issn | 2056-5623 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Future Science OA |
| spelling | doaj-art-0409c89acc454d89926e384fa4994fca2025-08-20T01:50:50ZengTaylor & Francis GroupFuture Science OA2056-56232025-12-0111110.1080/20565623.2025.2458432Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genesZhaoyun Jiang0Bing Xu1Bo Sun2Beibei Yang3Su Lu4Mengjian Li5Juan Zhang6Liqiang Qi7Qixi Wu8Beijing USCI Medical Laboratory, Beijing, ChinaBeijing USCI Medical Laboratory, Beijing, ChinaThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, ChinaThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, ChinaThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, ChinaBeijing USCI Medical Laboratory, Beijing, ChinaBeijing USCI Medical Laboratory, Beijing, ChinaDepartment of Breast Surgical Oncology, Cancer Institute, and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaBeijing USCI Medical Laboratory, Beijing, ChinaPurpose 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.Methods 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.Results 26 pathogenic variants, including one novel suspected pathogenic variant, were detected in 28 (15.7%) patients. These variants occurred in 7 HR-related genes: BRCA1, BRCA2, PALB2, RAD51D, RAD50, BRIP1, and ATM. The frequency of BRCA1 variants was higher in the younger group (8.9%) compared to the older group (2.6%), while the trend was reversed for BRCA2 (3.0% vs. 7.8%). All three patients with the pathogenic variant (p.Lys91fs) in RAD51D were diagnosed with triple-negative breast cancer.Conclusions 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.https://www.tandfonline.com/doi/10.1080/20565623.2025.2458432Breast cancerpathogenic varianthomologous recombination repairmulti-gene testing |
| spellingShingle | Zhaoyun Jiang Bing Xu Bo Sun Beibei Yang Su Lu Mengjian Li Juan Zhang Liqiang Qi Qixi Wu Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes Future Science OA Breast cancer pathogenic variant homologous recombination repair multi-gene testing |
| title | Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| title_full | Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| title_fullStr | Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| title_full_unstemmed | Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| title_short | Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| title_sort | germline variants analysis of chinese breast cancer patients reveals numerous alterations in homologous recombination genes |
| topic | Breast cancer pathogenic variant homologous recombination repair multi-gene testing |
| url | https://www.tandfonline.com/doi/10.1080/20565623.2025.2458432 |
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