A ‘Nonsense’ Mutation Leads to Aberrant Splicing of hMLH1 in a German Hereditary Non-polyposis Colorectal Cancer Family

被引：0
作者：
J. Baehring
C. Sutter
M. Kadmon
M. V. Knebel Doeberitz
J. Gebert
机构：
[1] University of Heidelberg,Department of General Surgery
[2] Institute of Pathology,Division of Molecular Pathology
[3] University of Heidelberg,Departments of Neurology and Neurosurgery
[4] Yale University School of Medicine,Department of Human Genetics
[5] Institute of Human Genetics,Division of Molecular Pathology
[6] University of Heidelberg,undefined
[7] Institute of Pathology,undefined
[8] University of Heidelberg,undefined
来源：
Familial Cancer | 2006年 / 5卷
关键词：
aberrant splicing; hMLH1; hMSH2; HNPCC; nonsense mutation; splice donor site;
D O I：
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中图分类号：
学科分类号：
摘要：
Hereditary Non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by germline mutations in at least four genes encoding integral components of the cellular DNA mismatch repair (MMR) system. The spectrum of genetic alterations encompasses missense- and nonsense mutations, intronic mutations affecting splice donor or acceptor sites as well as small-scale deletions and insertions. We have identified a ‘nonsense’ mutation that activates a cryptic splice site generating an in frame deletion of the last 17 codons of exon1 of the hMLH1 gene causing HNPCC in a German family. We present a comprehensive genetic analysis of this family that demonstrates important aspects of HNPCC pathogenesis.
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页码：195 / 199
页数：4
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