超越BRCA:对导致乳腺癌的遗传性综合征的审查
Jonathan V Nguyen1, Martha H Thomas2
1University of Virginia Health System, Department of Radiology, Charlottesville, VA.
Journal of breast imaging
|March 1, 2024
概括
鉴定遗传性乳腺癌基因中的致病变体对于个性化查和降低风险至关重要. 这些知识影响了多种癌症的患者和家庭监测,指导了早期检测策略.
科学领域:
- 医学遗传学 医学遗传学
- 在瘤学瘤学.
- 放射学 放射学是一门学科.
背景情况:
- 遗传性乳腺癌基因往往会增加多种恶性瘤的风险,而不仅仅是乳腺癌.
- 对病原性变异的基因测试影响了患者和家庭查协议.
- 多基因小组有助于识别和测试有风险的个体,以改善结果.
研究的目的:
- 概述11个与其他癌症风险增加相关的高风险乳腺癌基因.
- 为乳腺癌查和风险降低策略提供指导.
- 为具有遗传性倾向的个体提供非乳腺癌监测建议.
主要方法:
- 国家综合癌症网络 (NCCN) 遗传/家族高风险:乳腺和卵巢指南 (版本3.2019) 的审查.
- 鉴定与高乳腺癌风险相关的基因以及额外的查建议.
- 对非乳腺癌的监测建议的汇编.
主要成果:
- 11个基因被确定为赋予高乳腺癌风险和其他癌症的风险.
- 对于这些基因,除了每年进行的乳房造影外,还列出了特定的查建议.
- 介绍了高风险人群对非乳腺癌的监测指南.
结论:
- 通过基因检测,早期识别遗传性癌症倾向至关重要.
- 放射科医生在通过乳房镜检查和家庭病史评估来识别有风险的妇女方面发挥着关键作用.
- 综合基因评估和量身定制的监测计划对于管理遗传性癌症风险至关重要.
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