NDLI: Mutation deep within an intron of MSH2 causes Lynch syndrome

Content Provider	Springer Nature Link
Author	Clendenning, Mark Buchanan, Daniel D. Walsh, Michael D. Nagler, Belinda Rosty, Christophe Thompson, Bryony Spurdle, Amanda B. Hopper, John L. Jenkins, Mark A. Young, Joanne P.
Copyright Year	2011
Abstract	Lynch syndrome, a heritable form of cancer predisposition, is caused by germline mutations within genes of the DNA mismatch repair family, and can be rapidly identified in young onset cancer patients through the detection of loss of expression of at least one of these genes in tumour samples. To date, such causative mutations have only been identified within exonic and splice site regions. Though this approach has been successful in the majority of families, a considerable number remain in which no mutation has been found. To address this situation, we used an alternative mutation discovery procedure which involved haplotype analysis of the locus containing the gene lost in the tumour and delineation of segregating haplotypes, followed by an investigation of splicing aberrations to uncover cryptic splice sites which lay outside the genomic regions routinely examined for mutations. In this report, we show that an intronic mutation 478 bp upstream of exon 2 in the MSH2 gene causes Lynch syndrome through creation of a novel splice donor site with subsequent pseudoexon activation, thus highlighting the need for more extensive sequencing approaches in families where routine procedures fail to find a mutation.
Starting Page	297
Ending Page	301
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	10
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-03-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Lynch syndrome MSH2 Novel mutation mechanism Cancer Research Biomedicine general Epidemiology Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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