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摘要:
Multiple endocrine neoplasia type 1(MEN1)is an autosomal dominant inherited tumour syndrome expressing various endocrine and non-endocrine lesions and tumours.Since the identification of the causative gene,the oncosuppressor gene MEN1,in 1997,genetic testing has revealed an important approach for the early and differential diagnosis of the disease.The finding of a MEN1 mutation in a patient has important clinical implications for relatives since it allows very early disease diagnosis and identification of carriers,even before biochemical and/or clinical manifestation,permitting their inclusion in a specific program of surveillance and subsequent praecox therapy.Currently,genetic testing for MEN1 consists principally of the sequencing of coding regions and intron-exon junctions of the MEN1 gene.However,the recent acquisition of novel high throughput technologies will allow the design of innovative,accurate,complete and rapid genetic diagnosis.These new tools are able to increase the strength of the analysis and almost completely eliminate the possibility of false negative results.This review aims to give an overview on genetic testing of MEN1 syndrome,reporting the positive aspects of performing the analysis and the future perspectives for improving the performance of the test,as well as its application in clinical practice.
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篇名 Genetic test in multiple endocrine neoplasia type 1 syndrome:An evolving story
来源期刊 世界实验医学杂志 学科 医学
关键词 Multiple ENDOCRINE NEOPLASIA TYPE 1 Genetic test Clinical practice Next-generation sequencing
年,卷(期) 2015,(2) 所属期刊栏目
研究方向 页码范围 124-129
页数 6页 分类号 R
字数 语种
DOI
五维指标
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节点文献
Multiple
ENDOCRINE
NEOPLASIA
TYPE
1
Genetic
test
Clinical
practice
Next-generation
sequencing
研究起点
研究来源
研究分支
研究去脉
引文网络交叉学科
相关学者/机构
期刊影响力
世界实验医学杂志
不定期
2220-315X
北京市朝阳区东四环中路62号楼远洋国际中
出版文献量(篇)
90
总下载数(次)
0
总被引数(次)
0
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