Document Detail


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:  MEDLINE    
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; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Familial cancer     Volume:  12     ISSN:  1573-7292     ISO Abbreviation:  Fam. Cancer     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-10-08     Completed Date:  2014-05-22     Revised Date:  2014-09-02    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  563-6     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
3' Untranslated Regions / genetics*
Adenosine Triphosphatases / genetics*
Colonic Neoplasms / diagnosis,  genetics*
DNA / genetics
DNA Repair Enzymes / genetics*
DNA-Binding Proteins / genetics*
Family
Female
Gene Deletion*
Humans
Male
Polymerase Chain Reaction
Prognosis
Registries
Grant Support
ID/Acronym/Agency:
K05 CA152715/CA/NCI NIH HHS; U01 CA074783/CA/NCI NIH HHS; U01 CA074794/CA/NCI NIH HHS; U01 CA074799/CA/NCI NIH HHS; U01 CA074799/CA/NCI NIH HHS; U01 CA074800/CA/NCI NIH HHS; U01 CA074800/CA/NCI NIH HHS; U01 CA074806/CA/NCI NIH HHS; U01 CA074806/CA/NCI NIH HHS; U01 CA097735/CA/NCI NIH HHS; U01 CA097735/CA/NCI NIH HHS; U01CA074783/CA/NCI NIH HHS; U01CA074794/CA/NCI NIH HHS; U24 CA074783/CA/NCI NIH HHS; U24 CA074794/CA/NCI NIH HHS; U24 CA074799/CA/NCI NIH HHS; U24 CA074800/CA/NCI NIH HHS; U24 CA074806/CA/NCI NIH HHS; U24 CA097735/CA/NCI NIH HHS; UM1 CA167551/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/3' Untranslated Regions; 0/DNA-Binding Proteins; 9007-49-2/DNA; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/PMS2 protein, human; EC 6.5.1.-/DNA Repair Enzymes
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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