Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/94596
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Type: Journal article
Title: Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Author: Clendenning, M.
Walsh, M.
Gelpi, J.
Thibodeau, S.
Lindor, N.
Potter, J.
Newcomb, P.
LeMarchand, L.
Haile, R.
Gallinger, S.
Colorectal Cancer Family Registry
Hopper, J.
Jenkins, M.
Rosty, C.
Young, J.
Buchanan, D.
Citation: Familial Cancer, 2013; 12(3):563-566
Publisher: Springer Netherlands
Issue Date: 2013
ISSN: 1389-9600
1573-7292
Statement of
Responsibility: 
Mark Clendenning, Michael D. Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic LeMarchand, Robert Haile, Steve Gallinger, Colorectal Cancer Family Registry, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan
Abstract: Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3' end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3' end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families.
Keywords: Lynch syndrome; PMS2; Germline testing; Large deletions; Pseudogenes; Colorectal cancer
Rights: © Springer Science+Business Media Dordrecht 2013
RMID: 0030012011
DOI: 10.1007/s10689-012-9597-4
Appears in Collections:Medicine publications

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