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使用基因检测板进行癌症风险评估:临床应用的考量

Cancer risk assessment using genetic panel testing: considerations for clinical application.

作者信息

Hiraki Susan, Rinella Erica S, Schnabel Freya, Oratz Ruth, Ostrer Harry

机构信息

Department of Pathology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Ullmann 819, Bronx, NY, 10046, USA,

出版信息

J Genet Couns. 2014 Aug;23(4):604-17. doi: 10.1007/s10897-014-9695-6. Epub 2014 Mar 7.

Abstract

With the completion of the Human Genome Project and the development of high throughput technologies, such as next-generation sequencing, the use of multiplex genetic testing, in which multiple genes are sequenced simultaneously to test for one or more conditions, is growing rapidly. Reflecting underlying heterogeneity where a broad range of genes confer risks for one or more cancers, the development of genetic cancer panels to assess these risks represents just one example of how multiplex testing is being applied clinically. There are a number of issues and challenges to consider when conducting genetic testing for cancer risk assessment, and these issues become exceedingly more complex when moving from the traditional single-gene approach to panel testing. Here, we address the practical considerations for clinical use of panel testing for breast, ovarian, and colon cancers, including the benefits, limitations and challenges, genetic counseling issues, and management guidelines.

摘要

随着人类基因组计划的完成以及诸如新一代测序等高通量技术的发展,多重基因检测(即同时对多个基因进行测序以检测一种或多种病症)的应用正在迅速增长。鉴于广泛的基因会导致一种或多种癌症的风险,这反映了潜在的异质性,开发用于评估这些风险的遗传性癌症检测板只是多重检测在临床应用中的一个例子。在进行癌症风险评估的基因检测时,有许多问题和挑战需要考虑,而从传统的单基因方法转向检测板检测时,这些问题会变得极其复杂。在此,我们讨论了用于乳腺癌、卵巢癌和结肠癌检测板临床应用的实际考虑因素,包括益处、局限性和挑战、遗传咨询问题以及管理指南。

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