Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenici...

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Detalles Bibliográficos
Autores principales: Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L., Einarsdottir, Sylvia, Sigurdsson, Asgeir, Hampel, Heather, Snaebjornsson, Petur, Masson, Gisli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, Sulem, Patrick, Stefansson, Tryggvi, Shields, Peter G., Sigurdsson, Fridbjorn, Bekaii-Saab, Tanios, Moller, Pall H., Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Colin C., de la Chapelle, Albert, Jonasson, Jon G., Goldberg, Richard M., Stefansson, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418568/
https://www.ncbi.nlm.nih.gov/pubmed/28466842
http://dx.doi.org/10.1038/ncomms14755

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