title: Frequent mutations in the 3'-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours.
abstract: Microsatellite repeats are frequently found to be mutated in microsatellite-instable colorectal tumours. This suggests that these mutations are important events during tumour development. We have observed frequent mutations in microsatellite-instable (MSI-H) tumours and cell lines of a conserved A14 repeat within the 3'-untranslated region of the interferon-gamma receptor 1 gene (IFNGR1). The repeat was mutated in 59% (41 of 70) of colon carcinomas and in all four MSI-H colon cancer cell lines tested. In-vitro analysis of these cell lines did not show a decreased responsiveness to standard IFNgamma concentrations when compared to microsatellite-stable colon cancer cell lines. A functional consequence of the frequently found microsatellite instability in IFNGR1 is therefore not evident.
authors.affiliation: Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Jan Willem F
authors.initials: JW
authors.lastname: Dierssen
authors.forename: Marjo
authors.initials: M
authors.lastname: van Puijenbroek
authors.forename: David A
authors.initials: DA
authors.lastname: Dezentjé
authors.forename: Gert Jan
authors.initials: GJ
authors.lastname: Fleuren
authors.forename: Cees J
authors.initials: CJ
authors.lastname: Cornelisse
authors.forename: Tom
authors.initials: T
authors.lastname: van Wezel
authors.forename: Rienk
authors.initials: R
authors.lastname: Offringa
authors.forename: Hans
authors.initials: H
authors.lastname: Morreau
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D045744:Cell Line, Tumor; D015179:Colorectal Neoplasms / Q000235:genetics*; D006801:Humans; D053842:Microsatellite Instability; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017471:Receptors, Interferon / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D020413:3' Untranslated Regions; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor