对于年龄在35岁或35岁以下的her2阳性乳腺癌患者，推荐临床TP53基因检测。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-07-02 DOI:10.1038/s41525-025-00496-2

Jing Li, Lili Chen, Xuhui Chen, Meng Huang, Wenhui Guo, Minyan Chen, Yuxiang Lin, Yali Wang, Weifeng Cai, Yibin Qiu, Peng He, Qindong Cai, Chuan Wang, Fangmeng Fu

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引用次数: 0

摘要

中国早发性乳腺癌患者的TP53致病变异（pv）信息有限。我们调查了1492例brca1 /2阴性早发性乳腺癌患者中TP53 pv的患病率及其临床相关性。采集外周血样本，通过下一代测序进行TP53基因检测。最后，7例患者（0.47%）检测到TP53 pv。p.R248P、p.I251F和p.G266R在种系突变中首次被鉴定出来。TP53携带者的诊断年龄较低（p = 0.003）， her2阳性疾病的患病率较高（p = 0.020）。所有携带者都在35岁之前被诊断出来。在her2阳性≤35岁的患者中，TP53 pv的患病率为2.3%，在调整乳腺癌和/或卵巢癌家族史和双侧乳腺癌个人病史后显著高于其他患者（or = 13.57, p = 0.002）。这些结果支持优先对35岁以下her2阳性患者进行TP53基因检测，以指导临床管理，同时在不同人群中进行验证仍然是必要的。

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Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.

Limited information is available for TP53 pathogenic variants (PVs) in early-onset breast cancer patients in China. We investigated the prevalence and clinical relevance of TP53 PVs among 1492 BRCA1/2-negative early-onset breast cancer patients. Peripheral blood samples were collected for TP53 genetic testing through next-generation sequencing. Finally, TP53 PVs were identified in 7 patients (0.47%). The variants p.R248P, p.I251F, and p.G266R were identified for the first time in germline mutations. TP53 carriers exhibited significantly younger diagnosis age (p = 0.003) and higher prevalence of HER2-positive disease (p = 0.020). All carriers were diagnosed before age 35. In HER2-positive patients ≤35 years, the prevalence of TP53 PVs was 2.3%, significantly higher than others after adjusting for a family history of breast cancer and/or ovarian cancer and a personal history of bilateral breast cancer (OR = 13.57, p = 0.002). These results support TP53 genetic testing prioritization for HER2-positive patients under 35 years to guide clinical management, while validation in diverse populations remains essential.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.