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Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
MedLine Citation:
PMID:  23288611     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
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
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-4
Journal Detail:
Title:  Familial cancer     Volume:  -     ISSN:  1573-7292     ISO Abbreviation:  Fam. Cancer     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Cancer and Population Studies, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD, 4006, Australia, mark.clendenning@qimr.edu.au.
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