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The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations in the mismatch-repair genes. We report here the identification and characterization of a founder mutation in MSH2 in the Ashkenazi Jewish population. We identified a nucleotide substitution, MSH2*1906G→C, which results in a su...

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Publicat a:Am J Hum Genet
Autors principals: Foulkes, W. D., Thiffault, I., Gruber, S. B., Horwitz, M., Hamel, N., Lee, C., Shia, J., Markowitz, A., Figer, A., Friedman, E., Farber, D., Greenwood, C. M. T., Bonner, J. D., Nafa, K., Walsh, T., Marcus, V., Tomsho, L., Gebert, J., Macrae, F. A., Gaff, C. L., Paillerets, B. Bressac-de, Gregersen, P. K., Weitzel, J. N., Gordon, P. H., MacNamara, E., King, M.-C., Hampel, H., de la Chapelle, A., Boyd, J., Offit, K., Rennert, G., Chong, G., Ellis, N. A.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2002
Matèries:
Articles
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC420003/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12454801/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/345075
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