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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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha: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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