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共济失调毛细血管扩张症突变基因携带者的管理

Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.

作者信息

Mahon Suzanne M

机构信息

Department of Internal Medicine and in the School of Nursing at Saint Louis University in Missouri.

出版信息

Oncol Nurs Forum. 2016 Jan;43(1):114-7. doi: 10.1188/16.ONF.114-117.

DOI:10.1188/16.ONF.114-117
PMID:26679451
Abstract

Advances in genetic testing have led to the identification of multiple genes associated with a hereditary risk for developing breast and other cancers. One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk. Genetic testing can often lead to improved understanding and clarification of risk for developing cancer, as well as allow affected individuals to make informed choices about management, including the adoption of primary prevention strategies and more aggressive screening than typically recommended in the general population. This article provides an overview of the role of mutations in the ATM gene in developing malignancies, along with emerging research on treatment implications based on genetic testing results.
.

摘要

基因检测技术的进步已促使人们识别出多个与遗传性乳腺癌及其他癌症风险相关的基因。其中一个基因是共济失调毛细血管扩张症突变(ATM)基因,在许多为疑似有遗传风险的个体提供的基因检测套餐中都有该基因检测项目。基因检测通常能够增进对患癌风险的理解与明确,还能让受影响个体就治疗管理做出明智选择,包括采取一级预防策略以及比普通人群通常建议的更为积极的筛查措施。本文概述了ATM基因突变在恶性肿瘤发生中的作用,以及基于基因检测结果的治疗意义方面的最新研究。

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Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.共济失调毛细血管扩张症突变基因携带者的管理
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