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神经肿瘤学实践中的遗传咨询与肿瘤易感性

Genetic counseling and tumor predisposition in neuro-oncology practice.

作者信息

Dunbar Erin M, Eppolito Amanda, Henson John W

机构信息

Piedmont Brain Tumor Center, Piedmont Oncology, Atlanta, Georgia (E.M.D.); Genetic Counseling Service, Piedmont Oncology, Atlanta, Georgia (A.E.); Piedmont Brain Tumor Center, Piedmont Oncology, Atlanta, Georgia (J.W.H.).

出版信息

Neurooncol Pract. 2016 Mar;3(1):17-28. doi: 10.1093/nop/npv051. Epub 2015 Oct 31.

Abstract

Tumor predisposition syndromes may be under-recognized in neuro-oncology practice. Identifying patients with a hereditary tumor predisposition permits appropriate tumor management as well as surveillance and risk-reduction measures for patients and their families. The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors recently published referral guidelines for tumor predisposition assessment, providing an impetus to review the use of genetic counseling in neuro-oncology and to describe features of the less stereotypic conditions from the perspective of neuro-oncology practice. This review also provides a framework for the identification and management of these conditions, as well as references to guidelines and resources for providers and patients.

摘要

肿瘤易感性综合征在神经肿瘤学实践中可能未得到充分认识。识别具有遗传性肿瘤易感性的患者有助于对肿瘤进行适当管理,并为患者及其家属采取监测和降低风险的措施。美国医学遗传学与基因组学学会和国家遗传咨询师协会最近发布了肿瘤易感性评估的转诊指南,促使人们重新审视神经肿瘤学中遗传咨询的应用,并从神经肿瘤学实践的角度描述不那么典型的情况的特征。本综述还提供了识别和管理这些情况的框架,以及为医护人员和患者提供的指南及资源参考。

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