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

Hereditary Cancer in Clinical Practice

Volumn 12, Issue 1, 2014, Pages

  Grindedal, Eli M ^a   Aarset, Harald ^b   Bjørnevoll, Inga ^b   Røyset, Elin ^b   Mæhle, Lovise ^a   Stormorken, Astrid ^a   Heramb, Cecilie ^a   Medvik, Heidi ^a   Møller, Pål ^a   Sjursen, Wenche ^b,c  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^c NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

Expression; Immunohistochemistry; Lynch syndrome; Microsatellite instability; Penetrance; PMS2

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; COLORECTAL CANCER; ENDOMETRIUM CANCER; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CANCER; MAJOR CLINICAL STUDY; MALE; MELANOMA; MICROSATELLITE INSTABILITY; NEOPLASM; OVARY CANCER; PATHOGENICITY; PENETRANCE; PROSTATE CANCER; SARCOMA; SENSITIVITY ANALYSIS; STAINING; STOMACH CANCER;

EID: 84899917285     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-12-12     Document Type: Article

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