期刊
CURRENT OPINION IN GENETICS & DEVELOPMENT
卷 20, 期 3, 页码 251-256出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2010.02.004
关键词
-
The identification of germline high penetrance gain-of-function mutations in the RET proto-oncogene as causative of multiple endocrine neoplasia led to accurate molecular diagnosis, predictive testing and gene-informed preventative medicine. Many syndromic endocrine neoplasias fell under this clinically utile model, although not all endocrine neoplasias were accounted for by these high penetrance predisposition genes associated with the validated practice of clinical cancer genetics. The past decade has seen the identification of low penetrance alleles for various endocrine neoplasias, including medullary and epithelial thyroid carcinomas and isolated pituitary adenomas. Functional characterisation of these effects, which range from subtle expressional or micro-RNA regulation, and the analysis of the conferred risks, which are typically low and below the threshold for medical actionability, remain scientific challenges before these may be incorporated into routine clinical practice.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据