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

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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3639299/
https://ncbi.nlm.nih.gov/pubmed/23288611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-012-9597-4
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