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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2017
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oai:doaj.org-article:892427e1e8434dbab0cf538d0c78f1682021-12-02T14:42:18ZComprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS210.1038/ncomms147552041-1723https://doaj.org/article/892427e1e8434dbab0cf538d0c78f1682017-05-01T00:00:00Zhttps://doi.org/10.1038/ncomms14755https://doaj.org/toc/2041-1723Lynch 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.Sigurdis HaraldsdottirThorunn RafnarWendy L. FrankelSylvia EinarsdottirAsgeir SigurdssonHeather HampelPetur SnaebjornssonGisli MassonDaniel WengReynir ArngrimssonBirte KehrAhmet YilmazStefan HaraldssonPatrick SulemTryggvi StefanssonPeter G. ShieldsFridbjorn SigurdssonTanios Bekaii-SaabPall H. MollerMargret SteinarsdottirKristin AlexiusdottirMegan HitchinsColin C. PritchardAlbert de la ChapelleJon G. JonassonRichard M. GoldbergKari StefanssonNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017) |
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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 |
| 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 |
| 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://doaj.org/article/892427e1e8434dbab0cf538d0c78f168 |
| work_keys_str_mv |
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