Scholarlink

<p>This study examined the relationship between homologous recombination deficiency (HRD) and variations in non-<i>BRCA1/2</i> homologous recombination repair (HRR) genes. 27.3% (132/483) of the patients with ovarian, breast, endometrial, prostate, and pancreatic cancers carrying non-<i>BRCA1/2</i> HRR variations were HRD + . Germline mutations were associated with significantly higher HRD+ rates than somatic mutations, while biallelic alterations did not show stronger associations with HRD compared to monoallelic alterations. High HRD+ rates (66.7–100.0%) were associated with variations in <i>PALB2, RAD51C/D</i>, and <i>RAD54L</i>, while low HRD+ rates (0–37.5%) corresponded with variations in <i>PTEN, ATM, BRIP1, CDK12</i>, and <i>NBN</i>, which may be influenced by variation grade and tissue origin. HRD positivity was mutually exclusive with HER2+ status in breast cancer and with TMB-H/MSI-H in endometrial cancer. Overall, these findings highlight the different strengths of the correlation between non-<i>BRCA1/2</i> HRR gene variations and HRD and guide HRD testing in cases of “<i>BRCA1/2</i>-wildtype” results.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Homologous recombination deficiency among patients with germline or somatic non-BRCA1/2 homologous recombination repair gene variations

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月17日

查看全文
  • Yue Li,
  • Xinhua Yang,
  • Haoyang Cai,
  • Fang Wang

摘要

This study examined the relationship between homologous recombination deficiency (HRD) and variations in non-BRCA1/2 homologous recombination repair (HRR) genes. 27.3% (132/483) of the patients with ovarian, breast, endometrial, prostate, and pancreatic cancers carrying non-BRCA1/2 HRR variations were HRD + . Germline mutations were associated with significantly higher HRD+ rates than somatic mutations, while biallelic alterations did not show stronger associations with HRD compared to monoallelic alterations. High HRD+ rates (66.7–100.0%) were associated with variations in PALB2, RAD51C/D, and RAD54L, while low HRD+ rates (0–37.5%) corresponded with variations in PTEN, ATM, BRIP1, CDK12, and NBN, which may be influenced by variation grade and tissue origin. HRD positivity was mutually exclusive with HER2+ status in breast cancer and with TMB-H/MSI-H in endometrial cancer. Overall, these findings highlight the different strengths of the correlation between non-BRCA1/2 HRR gene variations and HRD and guide HRD testing in cases of “BRCA1/2-wildtype” results.