Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH...
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
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Author / Creator
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. and Stefansson, Kari
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 pathogenicity of several variants in the Icelandic population...
Alternative Titles
Full title
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_892427e1e8434dbab0cf538d0c78f168
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_892427e1e8434dbab0cf538d0c78f168
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms14755
