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<p>Limited information is available for <i>TP53</i> pathogenic variants (PVs) in early-onset breast cancer patients in China. We investigated the prevalence and clinical relevance of <i>TP53</i> PVs among 1492 <i>BRCA1/2</i>-negative early-onset breast cancer patients. Peripheral blood samples were collected for <i>TP53</i> genetic testing through next-generation sequencing. Finally, <i>TP53</i> 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. <i>TP53</i> carriers exhibited significantly younger diagnosis age (<i>p</i> = 0.003) and higher prevalence of HER2-positive disease (<i>p</i> = 0.020). All carriers were diagnosed before age 35. In HER2-positive patients ≤35 years, the prevalence of <i>TP53</i> 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, <i>p</i> = 0.002). These results support <i>TP53</i> genetic testing prioritization for HER2-positive patients under 35 years to guide clinical management, while validation in diverse populations remains essential.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月2日

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  • 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

摘要

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.