Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases

Lynch syndrome is an autosomal dominant cancer predisposition syndrome characterized by loss of function of DNA mismatch repair enzyme MLH1, MSH2, MSH6, or PMS2. Mutations in MLH1 and MSH2 account for ∼80% of the inherited cases. However, in up to 20% of cases suspected of having a germline mutation...

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Autores principales: Rumilla, Kandelaria, Schowalter, Karen V., Lindor, Noralane M., Thomas, Brittany C., Mensink, Kara A., Gallinger, Steven, Holter, Spring, Newcomb, Polly A., Potter, John D., Jenkins, Mark A., Hopper, John L., Long, Tiffany I., Weisenberger, Daniel J., Haile, Robert W., Casey, Graham, Laird, Peter W., Le Marchand, Loic, Thibodeau, Stephen N.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Investigative Pathology 2011
Materias:
Regular Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3069927/
https://ncbi.nlm.nih.gov/pubmed/21227399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2010.11.011
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