近日，Nature平台发布了一篇名为《Counselling framework for moderatepenetrance cancer-susceptibility mutations》的综述，主要针对乳腺癌和卵巢癌的基因突变提供了遗传咨询框架。
表中“Insufficient data”是指数据不足，现有研究不足以评估风险；“ No evidence of association”是指缺乏相关性证据，现有病例对照研究结果证明无关联性；“Conflicting data”是指相互矛盾的数据，相关研究结论不一。
CLTR（cumulative lifetime risk）：一生中累积的发病风险；NA：不适用；RR：相对风险。§代表在该年龄段5年内风险率接近或超过1%；||代表在该年龄段5年内乳腺癌的风险高于2.2%。
表中，CLTR表示年龄累积风险，RRSO表示卵巢切除术降低风险；*代表早期检测（35岁）或许能更加明确乳腺癌的家族史。§ Family history：如果通过家族史预测CLTR（80）＞20-25%，五年风险超过2-2.5%，应当考虑乳腺MRI检测。
备注：本文根据Nature Reviews Clinical Oncology官网编译，图文来自文献原文。
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