在致命的前列腺癌中通过体质DNA测序检测到的生殖系ATM突变
Rafael Grochot1,2, Suzanne Carreira1, Susana Miranda1
1The Institute of Cancer Research (ICR), London, UK.
European urology open science
|June 7, 2023
概括
在致死性前列腺癌 (PC) 中,瘤细胞突变突变 (ATM) 基因的生殖基因突变很少见,但与强烈的家族癌症史和特定的突变热点有关. 需要进一步的研究来了解它们的临床影响.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症研究 癌症研究
背景情况:
- 人口的0.5-1%中发现了阿塔克西亚特朗吉克塔西亚突变 (ATM) 基因的生殖基因突变,并与瘤倾向的增加有关.
- ATM突变前列腺癌 (PC) 的临床和病理特征尚不清楚,但与致命的PC结局有关.
研究的目的:
- 调查晚期转移性割抵抗性前列腺癌 (CRPC) 患者的临床特征,家族病史和结局,这些患者携带生殖系ATM突变.
- 在前列腺癌中识别ATM基因中的潜在突变热点.
主要方法:
- 基因ATM突变数据来自PC活检患者的唾液下一代测序.
- 追溯收集人口统计,家族史和临床数据.
- 使用R统计软件分析了整体存活率 (OS) 和CRPC的时间.
主要成果:
- 在1217名患者中,有7名患者 (0.6%) 检测到生殖系ATM突变.
- 五名患者有各种恶性瘤的家族病史.
- 诊断后的中位数OS为7.1年,CRPC后的中位数是5.3年.
- 在FRAP-ATM-TRRAP (FAT) 域内的突变被确定为潜在的突变热点.
结论:
- 细菌ATM突变在致命的PC中很罕见,但发生在突变热点.
- 需要进一步的研究,以充分描述生殖系ATM突变的男性PC的家族史和临床过程.
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