Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
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.
Published in: | Nature Communications |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Nature Portfolio
2017
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Subjects: | |
Online Access: | https://doi.org/10.1038/ncomms14755 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 |