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

被引:0
作者
Eli Marie Grindedal
Harald Aarset
Inga Bjørnevoll
Elin Røyset
Lovise Mæhle
Astrid Stormorken
Cecilie Heramb
Heidi Medvik
Pål Møller
Wenche Sjursen
机构
[1] Oslo University Hospital,Research Group on Inherited Cancer, Department of Medical Genetics
[2] Oslo University Hospital,Section of Inherited Cancer, Department of Medical Genetics
[3] St. Olavs University Hospital,Department of Pathology and Medical Genetics
[4] Norwegian University of Science and Technology,Department of Laboratory Medicine Children’s and Women’s Health
来源
Hereditary Cancer in Clinical Practice | / 12卷
关键词
Lynch syndrome; PMS2; Immunohistochemistry; Microsatellite instability; Penetrance; Expression;
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