男患者的BRCA1,BRCA2和相关癌症风险和管理:一篇评论
Heather H Cheng1,2, Jeffrey W Shevach3, Elena Castro4
1Clinical Research Division, Fred Hutchinson Cancer Center, Seattle, Washington.
JAMA oncology
|July 25, 2024
概括
男性携带BRCA1/2致病变体 (PVs) 面临着未被认可的癌症风险,包括前列腺癌,胰腺癌和乳腺癌. 增加男性的基因检测对于早期检测,风险管理和家庭癌症预防至关重要.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 预防医学 预防医学
背景情况:
- 生殖系BRCA1/2致病变体 (PVs) 在已建立的查和降低风险策略的情况下,显著增加女性携带者的癌症风险.
- 携带BRCA1/2PVs的男性携带者也面临前列腺癌,胰腺癌和乳腺癌的风险增加,尽管这些风险的认识较少.
- 针对性疗法,如PARP抑制剂,越来越多地被批准用于与BRCA1/2 PV相关的癌症,从而提高了临床可行性.
研究的目的:
- 审查有关癌症风险,向治疗和男性BRCA1/2PV载体早期检测指南的当前数据.
- 为这一群体突出新兴的研究和临床试验机会.
- 为了强调增加基因测试和男性个体之间的意识的重要性.
主要方法:
- 这项研究是对现有文献的叙述性审查.
- 关于癌症风险,治疗选择和查指南的数据综合.
- 确定研究缺口和临床试验前景.
主要成果:
- 在男性中,BRCA1/2 PVs 增加了特定癌症的风险,需要量身定制的查和管理.
- 对于男性BRCA1/2PV载体的临床可行性已随着新的向疗法而扩大.
- 尽管有越来越多的证据,但男性参与基因测试的比例仍然明显低于女性.
结论:
- 对携带BRCA1/2PV的男性进行更多的基因检测对于早期癌症检测和管理至关重要.
- 医疗保健提供者应该主动向男性患者提供基因测试.
- 识别男性携带者有助于个性化降低风险,治疗和面向家庭的癌症预防策略.
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