Journal article
Mutation deep within an intron of MSH2 causes Lynch syndrome
M Clendenning, DD Buchanan, MD Walsh, B Nagler, C Rosty, B Thompson, AB Spurdle, JL Hopper, MA Jenkins, JP Young
Familial Cancer | Published : 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 de..
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Awarded by National Cancer Institute
Funding Acknowledgements
We thank individual participants in the study who made this work possible and the contribution of the Jeremy Jass Memorial Pathology Collection. This work was funded by the National Cancer Institute, under RFA no. CA-95-011, and through a cooperative agreement with the Australasian Colorectal Cancer Family Registry (U01 CA097735). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute nor does mention of trade names, commercial products, or organisations imply endorsement by the US Government. JY is a Cancer Council Queensland Senior Research Fellow.