针对65岁及以上被诊断患有乳腺癌的患者遗传性癌症倾向的多基因小组测试
Hikmat Abdel-Razeq1,2, Faris Tamimi1, Baha Sharaf1
1Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan.
World journal of oncology
|September 27, 2024
概括
在老年乳腺癌患者的生殖基因测试 (GGT) 显示了超过10%的致病性生殖基因变异 (PGV),通常在可操作的基因中. 这凸显了向这个人口群体提供GGT的重要性,挑战了它的概念.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 临床医学 临床医学
背景情况:
- 胚胎基因检测 (GGT) 越来越容易获得和负担得起,导致更广泛的临床使用.
- 然而,对GGT指导方针的遵守率很低,特别是在老年患者中,他们往往不被提供测试.
- 这项研究侧重于65岁及以上的乳腺癌 (BC) 患者.
研究的目的:
- 评估生殖基因检测 (GGT) 在65岁及以上的新诊断乳腺癌 (BC) 患者中的实用性.
- 为了比较受限和扩展基因组之间致病性生殖系变异 (PGVs) 和不确定的意义变异 (VUS) 的检测率.
- 评估这个老年患者队伍中可操作基因中的PGVs的流行率.
主要方法:
- 连续新诊断的65岁以上的乳腺癌患者,符合NCCN指导方针的GGT,从2021年3月到2022年12月被录取.
- 对GGT.患者提供了受限制的 (2或20基因) 或扩展的 (84基因) 面板.
- 分析了人口统计数据,临床阶段,家族史和遗传变异状态 (PGV和VUS).
主要成果:
- 总共招募了204名患者,平均年龄为70.5岁,92.2%的患者患有早期疾病.
- 在10.8%的患者中发现了致病性/可能致病性生殖系变异 (PGV),在扩展的84基因小组中 (14.9%) 与受限小组 (6.8%) 相比,病原性/可能致病性生殖系变异的发生率显著更高.
- 不确定意义的变异 (VUS) 在扩大小组中也更常见 (64.4%对31.1%). 最常见的PGV是在BRCA1/2,CHEK2和ATM基因中.
结论:
- 对于年长的乳腺癌患者来说,生殖系基因检测至关重要,超过10%的患者患有PGV.
- 扩展的84基因小组在检测PGV和VUS方面表现出较高的产量,相比于这个人群中的受限小组.
- 这些发现强调了在老年结核病患者中,由于潜在的可采取行动的遗传改变,不忽视GGT的重要性.
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