癌症易感基因的遗传咨询框架

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。

多基因panels癌症筛查存在的隐患

如今,随着二代测序的应用,利用多基因panels来筛查多个癌症易感基因突变成为了可能,且临床中使用多基因panels来评估癌症的易感性也变得越来越普遍,尽管一些基因突变以及多数基因panels的临床效用还不明确,但这种现象还是很常见,尤其是在美国。

在临床检测中,与癌症易感性相关的适度外显率(moderate‑penetrance )的基因突变在2%-5%的个体中被检测到,其中一些突变具有潜在的临床可用性。与高外显率的遗传突变相比(例如BRCA1和BRCA2基因突变、与Lynch综合征相关的突变),适度外显率的基因突变带来的癌症风险要低些,且差异也更大些,因而两者的临床护理方法存在很大的差异,若根据前者的临床护理方案来管理后者,那么将造成实质性的伤害。

那么应该如何恰当地护理携带适度外显率的基因突变者呢?迄今为止还未有明确的答案。因此在本综述中,作者为临床决策者提供了一个咨询框架。

突变基因

在本篇综述中,作者主要聚焦在与乳腺癌和卵巢癌相关的基因突变,列出了与乳腺癌、卵巢癌易感基因中外显率适度的突变。

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。

相关风险数据

作者在文中统计了外显率适度的突变携带者平均五年及一生中的乳腺癌风险。

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%。

同时,研究人员还统计了外显率适度的突变携带者平均五年及一生中的卵巢癌风险。

c‑C表示病例对照研究,seg表示分离分析,CLTR表示年龄累积发生率,*表示该年龄段中风险大于1.2%,‡表示该年龄段中风险接近或超过2.6%。

最后,作者还提供了对适度外显率乳腺癌易感体质的管理建议。

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。

患者携带临床意义不明的变异(包括BARD1、CHEK2p.I157T和p.S428F、MRE11A、RAD50/RAD51B、SLX4、XRCC2),在管理时应该根据其家族史进行。该建议主要为肿瘤学家和其他健康护理提供者提供参考资源,以帮助他们为外显率适度的基因突变携带者提供优质服务。不过,这些建议不适合使用在所有的检测中,在做任何临床决定时,医生应该根据患者的不同情况而异。

备注:本文根据Nature Reviews Clinical Oncology官网编译,图文来自文献原文。

文献链接:Counselling framework for moderatepenetrance cancer-susceptibility mutations

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