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

• Published in: Nature Communications
• Main Authors: Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L., Einarsdóttir, Sylvía, Sigurðsson, Ásgeir, Hampel, Heather, Snaebjornsson, Petur, Másson, Gísli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, sulem, patrick, Stefansson, Tryggvi, Shields, Peter G., Sigurðsson, Fridbjörn, Bekaii-Saab, Tanios, Moller, Pall H., Steinarsdóttir, Margrét, Alexíusdóttir, Kristín, Hitchins, Megan, Pritchard, Colin C., de la Chapelle, Albert, Jónasson, Jón Gunnlaugur, Goldberg, Richard M., Stefansson, Kari
• Other Authors: Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Nature 2017
• Subjects: Cancer epidemiology; Cancer genetics; Cancer genomics; Krabbamein; Krabbameinsrannsóknir; Arfgengi; Erfðagreining; Lynch; Weaver; Iceland
• Online Access: https://hdl.handle.net/20.500.11815/374; https://doi.org/10.1038/ncomms14755

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...