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

• Main Authors: 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, Fridjorn, Bekaii-Saab, Tanios, Moller, Pall H, Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Coiln C, Chapelle, Albert de la, Jonasson, Jon G, Goldberg, Richard M, Stefansson, Kari
• Format: Text
• Language: unknown
• Published: The Research Repository @ WVU 2017
• Subjects: Lynch; Iceland
• Online Access: https://researchrepository.wvu.edu/faculty_publications/1699; https://researchrepository.wvu.edu/context/faculty_publications/article/2618/viewcontent/ncomms14755.pdf

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...