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

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dc.contributor.authorClendenning, M.
dc.contributor.authorWalsh, M.
dc.contributor.authorGelpi, J.
dc.contributor.authorThibodeau, S.
dc.contributor.authorLindor, N.
dc.contributor.authorPotter, J.
dc.contributor.authorNewcomb, P.
dc.contributor.authorLeMarchand, L.
dc.contributor.authorHaile, R.
dc.contributor.authorGallinger, S.
dc.contributor.authorColorectal Cancer Family Registry,
dc.contributor.authorHopper, J.
dc.contributor.authorJenkins, M.
dc.contributor.authorRosty, C.
dc.contributor.authorYoung, J.
dc.contributor.authorBuchanan, D.
dc.date.issued2013
dc.description.abstractCurrent 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.
dc.description.statementofresponsibilityMark 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
dc.identifier.citationFamilial Cancer, 2013; 12(3):563-566
dc.identifier.doi10.1007/s10689-012-9597-4
dc.identifier.issn1389-9600
dc.identifier.issn1573-7292
dc.identifier.orcidYoung, J. [0000-0002-1514-1522]
dc.identifier.urihttp://hdl.handle.net/2440/94596
dc.language.isoen
dc.publisherSpringer Netherlands
dc.rights© Springer Science+Business Media Dordrecht 2013
dc.source.urihttps://doi.org/10.1007/s10689-012-9597-4
dc.subjectLynch syndrome
dc.subjectPMS2
dc.subjectGermline testing
dc.subjectLarge deletions
dc.subjectPseudogenes
dc.subjectColorectal cancer
dc.titleDetection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
dc.typeJournal article
pubs.publication-statusPublished

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