遗传性乳腺和卵巢癌的生殖基因检测:风险评估中的当前概念
Siddhartha Yadav1, Fergus J Couch2, Susan M Domchek3
1Department of Oncology, Mayo Clinic, Rochester, Minnesota 55905, USA yadav.siddhartha@mayo.edu couch.fergus@mayo.edu susan.domchek@pennmedicine.upenn.edu.
Cold Spring Harbor perspectives in medicine
|December 27, 2023
概括
对于遗传性乳腺癌和卵巢癌的生殖基因测试已经取得了进展,识别了超出BRCA1/2.2的风险. 风险评估现在考虑了高风险和一般人群中的基因,家族史和变异类型.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 癌症基因组学 癌症基因组学
背景情况:
- 遗传性乳腺和卵巢癌 (HBOC) 的理解已经增长,识别了BRCA1/2.2之外的多个DNA修复基因.
- 癌症风险受到特定基因,家族史,多基因风险得分和变异特征的影响.
研究的目的:
- 审查生殖系遗传测试和HBOC风险评估.
- 综合高风险和基于人群的研究结果.
主要方法:
- 关于遗传性乳腺和卵巢癌研究的文献综述.
- 从高风险和基于人口的队列中分析风险估计.
主要成果:
- 多个DNA修复基因中的致病变体增加了乳腺和卵巢癌的风险.
- 风险估计正在演变,最近的数据来自基于人口的研究.
结论:
- 胚胎基因检测对于识别患有遗传性乳腺癌和卵巢癌风险的个体至关重要.
- 综合性风险评估需要考虑各种遗传和临床因素.
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