Journal article
Determining the frequency of de novo germline mutations in DNA mismatch repair genes
AKO Win, MA Jenkins, DD Buchanan, M Clendenning, JP Young, GG Giles, J Goldblatt, BA Leggett, JL Hopper, SN Thibodeau, NM Lindor
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2011
Abstract
Background: Carriers of a germline mutation in a DNA mismatch repair (MMR) gene-that is, persons with Lynch syndrome-have substantially high risks of colorectal (CRC), endometrial, and several other cancers. The proportion of carriers who have de novo mutations (not inherited from either parent) is not known. This study reports a case series of de novo mutations in MMR genes and estimates the frequency of de novo mutation in MMR genes using the Colon Cancer Family Registry. Methods: Screening for germline MLH1, MSH2, MSH6, and PMS2 mutations was performed for all incident CRC cases recruited from cancer registries (population based probands) displaying microsatellite instability (MSI) or los..
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Awarded by National Cancer Institute
Funding Acknowledgements
This work was supported by the National Cancer Institute, National Institutes of Health under RFA #CA-95-011 and through cooperative agreements with members of the Colon Cancer Family Registry and Principal Investigators of Australasian Colorectal Cancer Family Registry (U01 CA097735) and Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centres in the CFRs, nor does mention of trade names, commercial products, or organisations imply endorsement by the US Government or the CFR. Authors had full responsibility for the design of the study, the collection of the data, the analysis and interpretation of the data, the decision to submit the manuscript for publication, and the writing of the manuscript.