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- Title
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
- Authors
Wehner, Maria; Mangold, Elisabeth; Sengteller, Marlies; Friedrichs, Nicolaus; Aretz, Stefan; Friedl, Waltraut; Propping, Peter; Pagenstecher, Constanze
- Abstract
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.
- Publication
European journal of human genetics : EJHG, 2005, Vol 13, Issue 8, p983
- ISSN
1018-4813
- Publication type
Journal Article
- DOI
10.1038/sj.ejhg.5201421