Evidence map›Paper›PMID 40167152›Full record

ArticleFuture science OA2025

Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.

Zhaoyun Jiang, Bing Xu, Bo Sun, Beibei Yang, Su Lu, Mengjian Li, Juan Zhang, Liqiang Qi, Qixi Wu

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Article in Future science OA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Zhaoyun JiangBeijing USCI Medical Laboratory, Beijing, China.
Bing XuBeijing USCI Medical Laboratory, Beijing, China.
Bo SunThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Beibei YangThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Su LuThe 2nd Department of Breast Cancer Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Mengjian LiBeijing USCI Medical Laboratory, Beijing, China.
Juan ZhangBeijing USCI Medical Laboratory, Beijing, China.
Liqiang QiDepartment of Breast Surgical Oncology, Cancer Institute, and Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Qixi WuBeijing USCI Medical Laboratory, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeWe 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.

methodsA 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.

results26 pathogenic variants, including one novel suspected pathogenic variant, were detected in 28 (15.7%) patients. These variants occurred in 7 HR-related genes:

conclusionsHR-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.

Indexed as

Breast cancerhomologous recombination repairmulti-gene testingpathogenic variant

Identifiers

PMID40167152
PMCPMC11970748

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