779名转移性前列腺癌患者的生殖系致病变体的流行
Michiel Vlaming1, Wouter Koole1, R Jeroen A van Moorselaar2
1Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
BJU international
|September 2, 2025
概括
在转移性前列腺癌 (mPCa) 的荷兰男性中,CHEK2,ATM和BRCA2基因中的生殖系致病变体 (gPV) 较为常见. 某些因素,如家族病史,增加了携带这些与癌症相关的变体的可能性.
科学领域:
- 癌症学
- 遗传学
- 癌症研究
背景情况:
- 转移性前列腺癌 (mPCa) 可能与遗传性倾向有关.
- 在mPCa患者的风险评估和治疗策略中,了解生殖系致病变体 (gPV) 在DNA损伤修复基因中的流行率至关重要.
研究的目的:
- 在荷兰的mPCa患者中确定乳腺癌相关基因中的gPV频率.
- 在这一群体中确定携带gPV的特定风险因素.
主要方法:
- 一项涉及15个中心的前性多中心队列研究.
- 对患有mPCa的患者提供了BRCA1,BRCA2,ATM,CHEK2和PALB2的生殖基因检测 (n=779).
- 与参考人群 (n=16,823) 进行了比较;确定了影响gPV概率的因素.
主要成果:
- 5. 9% 的mPCa患者携带了DNA损伤修复基因中的gPV.
- 与基准人群相比,mPCa患者中CHEK2,ATM和BRCA2的gPV发生率明显高.
- 在患有第二种原发性癌症,有早期乳腺癌或胰腺癌家族病史或犹太血统的患者中观察到gPV的可能性增加.
结论:
- 在CHEK2,ATM和BRCA2的生殖系致病变体与男性转移性前列腺癌有关.
- 医疗专业人员应考虑对具有特定危险因素的mPCa患者进行生殖基因检测.
- 识别gPV可以为个性化风险管理和治疗方法提供信息.
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