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

Clendenning, Mark, Walsh, Michael D., Gelpi, Judith Balmana, Thibodeau, Stephen N., Lindor, Noralane, Potter, John D., Newcomb, Polly, LeMarchand, Loic, Haile, Robert, Gallinger, Steve, Hopper, John L., Jenkins, Mark A., Rosty, Christophe, Young, Joanne P. and Buchanan, Daniel D. (2013) Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?. Familial Cancer, 12 3: 563-566. doi:10.1007/s10689-012-9597-4


Author Clendenning, Mark
Walsh, Michael D.
Gelpi, Judith Balmana
Thibodeau, Stephen N.
Lindor, Noralane
Potter, John D.
Newcomb, Polly
LeMarchand, Loic
Haile, Robert
Gallinger, Steve
Hopper, John L.
Jenkins, Mark A.
Rosty, Christophe
Young, Joanne P.
Buchanan, Daniel D.
Title Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Formatted title
Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Journal name Familial Cancer   Check publisher's open access policy
ISSN 1389-9600
1573-7292
Publication date 2013-09
Year available 2013
Sub-type Article (original research)
DOI 10.1007/s10689-012-9597-4
Open Access Status
Volume 12
Issue 3
Start page 563
End page 566
Total pages 4
Place of publication Dordrecht, GX, Netherlands
Publisher Springer
Collection year 2014
Language eng
Formatted 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.
Keyword Lynch syndrome
PMS2
Germline testing
Large deletions
Pseudogenes
Colorectal cancer
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 3 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 4 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Sun, 10 Nov 2013, 00:08:18 EST by System User on behalf of School of Medicine