Nature Communications (May 2017)
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
Affiliations
- Sigurdis Haraldsdottir
- Department of Internal Medicine, Stanford Cancer Center
- Thorunn Rafnar
- deCODE genetics/Amgen
- Wendy L. Frankel
- Department of Pathology, The Ohio State University Comprehensive Cancer Center
- Sylvia Einarsdottir
- Landspitali University Hospital
- Asgeir Sigurdsson
- deCODE genetics/Amgen
- Heather Hampel
- Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 460West 10th Avenue Columbus
- Petur Snaebjornsson
- Netherlands Cancer Institute—Antoni van Leeuwenhoek (NKI/AVL)
- Gisli Masson
- deCODE genetics/Amgen
- Daniel Weng
- Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 460West 10th Avenue Columbus
- Reynir Arngrimsson
- University of Iceland
- Birte Kehr
- deCODE genetics/Amgen
- Ahmet Yilmaz
- Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 460West 10th Avenue Columbus
- Stefan Haraldsson
- Landspitali University Hospital
- Patrick Sulem
- deCODE genetics/Amgen
- Tryggvi Stefansson
- Landspitali University Hospital
- Peter G. Shields
- Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 460West 10th Avenue Columbus
- Fridbjorn Sigurdsson
- Landspitali University Hospital
- Tanios Bekaii-Saab
- Department of Internal Medicine, Mayo Clinic
- Pall H. Moller
- Landspitali University Hospital
- Margret Steinarsdottir
- Landspitali University Hospital
- Kristin Alexiusdottir
- Icelandic Cancer Registry
- Megan Hitchins
- Department of Internal Medicine, Stanford Cancer Center
- Colin C. Pritchard
- University of Washington
- Albert de la Chapelle
- Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 460West 10th Avenue Columbus
- Jon G. Jonasson
- University of Iceland
- Richard M. Goldberg
- Department of Internal Medicine, West Virginia University Cancer Institute, 1805 Health Sciences Center South Morgantown
- Kari Stefansson
- University of Iceland
- DOI
- https://doi.org/10.1038/ncomms14755
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
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.
