Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Science
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Acceso en línea:https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168
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Sumario: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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