Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L. Frankel and 24 more
Nature Communications · 2017
doi:10.1038/ncomms14755 (opens in a new tab)
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Abstract
Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of Lynch syndrome in the Icelandic population.
Abstract licence: CC BY-NC-ND
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