| Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? | |
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MedLine Citation:
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PMID: 23288611 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2013-1-4 |
Journal Detail:
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Title: Familial cancer Volume: - ISSN: 1573-7292 ISO Abbreviation: Fam. Cancer Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100898211 Medline TA: Fam Cancer Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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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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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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