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Familial Cancer
Published in: Familial Cancer 3/2013

01-09-2013 | Short Communication

Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Authors: Mark Clendenning, Michael D. Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic LeMarchand, Robert Haile, Steve Gallinger, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan, Colorectal Cancer Family Registry

Published in: Familial Cancer | Issue 3/2013

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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.
Appendix
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Metadata
Title
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Authors
Mark Clendenning
Michael D. Walsh
Judith Balmana Gelpi
Stephen N. Thibodeau
Noralane Lindor
John D. Potter
Polly Newcomb
Loic LeMarchand
Robert Haile
Steve Gallinger
John L. Hopper
Mark A. Jenkins
Christophe Rosty
Joanne P. Young
Daniel D. Buchanan
Colorectal Cancer Family Registry
Publication date
01-09-2013
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2013
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-012-9597-4

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