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.
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Online Access: | https://doi.org/10.1038/ncomms14755 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 |
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ftdoajarticles:oai:doaj.org/article:892427e1e8434dbab0cf538d0c78f168 2023-05-15T16:47:05+02:00 Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 Sigurdis Haraldsdottir Thorunn Rafnar Wendy L. Frankel Sylvia Einarsdottir Asgeir Sigurdsson Heather Hampel Petur Snaebjornsson Gisli Masson Daniel Weng Reynir Arngrimsson Birte Kehr Ahmet Yilmaz Stefan Haraldsson Patrick Sulem Tryggvi Stefansson Peter G. Shields Fridbjorn Sigurdsson Tanios Bekaii-Saab Pall H. Moller Margret Steinarsdottir Kristin Alexiusdottir Megan Hitchins Colin C. Pritchard Albert de la Chapelle Jon G. Jonasson Richard M. Goldberg Kari Stefansson 2017-05-01T00:00:00Z https://doi.org/10.1038/ncomms14755 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 EN eng Nature Portfolio https://doi.org/10.1038/ncomms14755 https://doaj.org/toc/2041-1723 doi:10.1038/ncomms14755 2041-1723 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017) Science Q article 2017 ftdoajarticles https://doi.org/10.1038/ncomms14755 2022-12-31T13:54:40Z 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. Article in Journal/Newspaper Iceland Directory of Open Access Journals: DOAJ Articles Lynch ENVELOPE(-57.683,-57.683,-63.783,-63.783) Nature Communications 8 1 |
institution |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Science Q |
spellingShingle |
Science Q Sigurdis Haraldsdottir Thorunn Rafnar Wendy L. Frankel Sylvia Einarsdottir Asgeir Sigurdsson Heather Hampel Petur Snaebjornsson Gisli Masson Daniel Weng Reynir Arngrimsson Birte Kehr Ahmet Yilmaz Stefan Haraldsson Patrick Sulem Tryggvi Stefansson Peter G. Shields Fridbjorn Sigurdsson Tanios Bekaii-Saab Pall H. Moller Margret Steinarsdottir Kristin Alexiusdottir Megan Hitchins Colin C. Pritchard Albert de la Chapelle Jon G. Jonasson Richard M. Goldberg Kari Stefansson Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
topic_facet |
Science Q |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Sigurdis Haraldsdottir Thorunn Rafnar Wendy L. Frankel Sylvia Einarsdottir Asgeir Sigurdsson Heather Hampel Petur Snaebjornsson Gisli Masson Daniel Weng Reynir Arngrimsson Birte Kehr Ahmet Yilmaz Stefan Haraldsson Patrick Sulem Tryggvi Stefansson Peter G. Shields Fridbjorn Sigurdsson Tanios Bekaii-Saab Pall H. Moller Margret Steinarsdottir Kristin Alexiusdottir Megan Hitchins Colin C. Pritchard Albert de la Chapelle Jon G. Jonasson Richard M. Goldberg Kari Stefansson |
author_facet |
Sigurdis Haraldsdottir Thorunn Rafnar Wendy L. Frankel Sylvia Einarsdottir Asgeir Sigurdsson Heather Hampel Petur Snaebjornsson Gisli Masson Daniel Weng Reynir Arngrimsson Birte Kehr Ahmet Yilmaz Stefan Haraldsson Patrick Sulem Tryggvi Stefansson Peter G. Shields Fridbjorn Sigurdsson Tanios Bekaii-Saab Pall H. Moller Margret Steinarsdottir Kristin Alexiusdottir Megan Hitchins Colin C. Pritchard Albert de la Chapelle Jon G. Jonasson Richard M. Goldberg Kari Stefansson |
author_sort |
Sigurdis Haraldsdottir |
title |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
title_short |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
title_full |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
title_fullStr |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
title_full_unstemmed |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 |
title_sort |
comprehensive population-wide analysis of lynch syndrome in iceland reveals founder mutations in msh6 and pms2 |
publisher |
Nature Portfolio |
publishDate |
2017 |
url |
https://doi.org/10.1038/ncomms14755 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 |
long_lat |
ENVELOPE(-57.683,-57.683,-63.783,-63.783) |
geographic |
Lynch |
geographic_facet |
Lynch |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017) |
op_relation |
https://doi.org/10.1038/ncomms14755 https://doaj.org/toc/2041-1723 doi:10.1038/ncomms14755 2041-1723 https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 |
op_doi |
https://doi.org/10.1038/ncomms14755 |
container_title |
Nature Communications |
container_volume |
8 |
container_issue |
1 |
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1766037182205657088 |