Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

被引：0
作者：
Maria Wehner
Elisabeth Mangold
Marlies Sengteller
Nicolaus Friedrichs
Stefan Aretz
Waltraut Friedl
Peter Propping
Constanze Pagenstecher
机构：
[1] Institute of Human Genetics,
[2] University of Bonn,undefined
[3] Institute of Pathology,undefined
[4] University of Bonn,undefined
来源：
European Journal of Human Genetics | 2005年 / 13卷
关键词：
hereditary nonpolyposis colorectal cancer; HNPCC; deletion screening; MLPA;
D O I：
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中图分类号：
学科分类号：
摘要：
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a deficiency in DNA mismatch repair in consequence of germline mutations mainly in the genes MSH2 and MLH1. Around 10% of patients suspected of HNPCC are identified with large genomic deletions that cannot be detected by conventional methods of mutation screening. The recently developed multiplex ligation-dependent probe amplification (MLPA) proved to be an easy to perform method for deletion detection and is reliable when more than one exon is deleted. We show that, in some cases, apparent deletions of single exons may actually result from single base substitutions or small insertions/deletions in the hybridisation sequence of MLPA probes. We conclude that single exon deletions, detected by MLPA or multiplex PCR, should be validated with additional methods.
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页码：983 / 986
页数：3
相关论文
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