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Re: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative

机译:回复:遗传性癌症风险亲属的级联遗传测试:在线计划的结果

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摘要

We read with interest Caswell-Jin et al.’s report regarding cascade testing in relatives at-risk for hereditary cancer ( ). They noted that of 1084 first-degree relatives of individuals with a cancer predisposing pathogenic variant (PV) who underwent multigene cancer panel testing (MCPT), 4.9% tested positive for a PV in a gene other than the one present in their family. These data are important for two reasons. First, site-specific testing versus MCPT has been the standard practice, and MCPT in relatives is not recommended by national guidelines ( ). Second, although there are published reports of more than one PV identified in a family, including those identified from MCPT ( ), this is the first and largest study describing systematic use of such testing in relatives. Given that the cost of MCPT has dropped considerably ($250 or less in some US labs), it is not surprising that this testing is being offered more often—not only to index patients but also to their relatives.
机译:我们感兴趣地阅读了卡斯韦尔·金(Caswell-Jin)等人的报告,该报告关于有遗传风险的亲属进行级联检测()。他们指出,在经过多基因癌症专家组测试(MCPT)的具有癌症易感病原体(PV)的个体的1084名一级亲属中,有4.9%的人其家庭中存在的其他基因中的PV呈阳性。这些数据之所以重要,有两个原因。首先,相对于MCPT的针对特定地点的测试已成为标准做法,国家指南不推荐亲属进行MCPT()。其次,尽管已经发表了关于一个家庭中鉴定出多个PV的报告,包括从MCP​​T()中鉴定出的PV,但这是第一个也是规模最大的研究,描述了在亲戚中对此类检测的系统使用。鉴于MCPT的费用已大大降低(在美国的某些实验室中为250美元或更低),因此这种检测的频率更高并不奇怪,它不仅适用于索引患者,还适用于其亲属。

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