男性乳腺癌风险与BRCA1/2以外的基因的致病变体相关:意大利的病例控制研究
Agostino Bucalo1, Giulia Conti1, Virginia Valentini1
1Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
概括
非BRCA1/2基因中的致病变体 (PV) 显著增加男性乳腺癌 (MBC) 风险. 这项研究确定了PALB2和ATM光伏作为主要贡献者,有助于改进MBC预防策略.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 流行病学 流行病学
背景情况:
- 在BRCA1/2基因中的生殖系致病变体 (PVs) 与两种性别的乳腺癌 (BC) 风险有关.
- 多基因小组测试识别了BRCA1/2以外的基因中的PVs,用于BC风险评估.
- 与女性BC相比,男性乳腺癌 (MBC) 的非BRCA1 / 2 PVs数据有限.
研究的目的:
- 调查男性乳腺癌 (MBC) 的非BRCA1/2基因中的PVs的模式,患病率和风险估计.
- 通过更好地了解遗传风险因素,加强男性患者的BC预防策略.
- 在MBC中提供非BRCA1/2 PVs的人口级风险估计.
主要方法:
- 在意大利人群中进行了一项大型病例控制研究.
- 包括767例BRCA1/2-阴性男性乳腺癌 (MBC) 病例和1349名男性对照.
- 所有参与者都使用定制的50种癌症基因组进行了查.
主要成果:
- 非BRCA1/2基因中的PV在MBC患者 (4.8%) 中比对照患者 (1.8%) 更频繁,显著增加MBC风险 (OR: 3.48).
- 携带PV携带者更有可能有个人或家族癌症病史.
- 在PALB2 (OR:7.28) 和ATM (OR:4.79) 中的致病变体与增加的MBC风险密切相关.
结论:
- 这项研究强调了PALB2和ATM PVs在男性乳腺癌易感性方面的重要性.
- 为MBC中非BRCA1/2 PVs提供关键的人口级风险估计.
- 结果可以为实施多基因小组测试和针对男性患者及其家属的性别特异性BC风险管理提供信息.
关键词:
这是一个ATMATMATM.这就是BRCA1/2的原因.乳腺癌的风险 乳腺癌的风险CHEK2 是一个国家.案例控制研究研究.男性的乳腺癌是男性的乳腺癌.多基因面板测试测试多基因面板测试在PALB2中,PALB2是PALB2.病原性变体 病原性变体更多相关视频
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