The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.

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Published in Hered Cancer Clin Pract on April 21, 2014

Authors

Eli Marie Grindedal1, Harald Aarset2, Inga Bjørnevoll2, Elin Røyset2, Lovise Mæhle1, Astrid Stormorken1, Cecilie Heramb1, Heidi Medvik1, Pål Møller3, Wenche Sjursen4

Author Affiliations

1: Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway ; Section of Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
2: Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
3: Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
4: Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway ; Department of Laboratory Medicine Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway.

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