生殖线对细胞癌的敏感性以及对遗传查的含义
Kate I Glennon1,2,3, Mikiko Endo3, Yoshiaki Usui3
1Department of Human Genetics, McGill University, Montreal, Canada.
JCO precision oncology
|August 1, 2024
概括
对细胞癌 (RCC) 的遗传易感性涉及加拿大人的CHEK2,ATM和FH等特定基因. 在BRCA1/2和ATM中的生殖系致病变体 (PVs) 与转移有关,但目前的查指南错过了许多患者.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 基因组医学是基因组医学.
背景情况:
- 对非综合性细胞癌 (RCC) 的遗传易感性知之甚少,特别是在多种不同的人群和组织学亚型中.
- 识别遗传倾向对于理解RCC发展和改善患者的治疗结果至关重要.
研究的目的:
- 在加拿大人口中识别RCC风险基因.
- 调查已识别的风险基因和生殖系致病变体 (PVs) 的临床意义.
- 评估RCC患者生殖线PV的全球变异,并评估当前的遗传查标准.
主要方法:
- 针对960名加拿大RCC患者的46个癌症倾向基因的有针对性的测序.
- 在RCC患者中的生殖线PVs与无癌症对照组的比较.
- 整合了来自加拿大,日本,英国和美国队伍的数据,以分析特定人口的光伏变化.
- 评估现有的遗传查转诊标准的有效性.
主要成果:
- 在加拿大队列的5.8%中发现了39种生殖系PV.
- 在CHEK2和ATM中的PV被显著丰富在透明细胞RCC中,而FHPV被丰富在非透明细胞RCC中.
- BRCA1,BRCA2和ATM PVs与RCC转移有关.
- 人口特定的光伏缩被观察到,在日本是TP53,在加拿大/美国/英国是CHEK2/ATM,在美国是FH/BAP1.
结论:
- 在加拿大人口中,CHEK2,ATM和FH被确定为RCC风险基因.
- 在BRCA1/2和ATM中的生殖系PV与RCC转移的风险增加有关.
- 目前全球临床指南对RCC的基因查不充分识别罕见生殖系PVs的患者,缺少70%以上.
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