title: Frequency of fibroblast growth factor receptor 3 mutations in sporadic tumours.
abstract: Mutations in FGFR3 have been identified in several tumour types including bladder carcinoma, cervical carcinoma, and multiple myeloma. In bladder carcinoma, we recently identified FGFR3 mutations in 41% of tumours, making this the most frequently mutated putative oncogene identified in bladder cancer to date. We have now investigated the frequency of FGFR3 mutation in a panel of 125 tumours and 13 cell lines from various other organs. We analysed the mutation hotspots in exons 7, 10 and 15 by direct DNA sequencing, and found one mutation in exon 7 (S249C) in 1/28 (3.5%) cervical tumours. Mutations were not detected in stomach, rectum, colon, prostate, ovarian, breast, brain, or renal tumours, nor were they found in any of the cell lines included in this study. We conclude that FGFR3 is commonly mutated in bladder carcinoma and only rarely in cervical carcinoma. Several tumour types appear not to possess any mutations in FGFR3, suggesting that these mutations are important only in the development of certain types of tumour.
authors.affiliation: ICRF Clinical Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
authors.forename: K
authors.initials: K
authors.lastname: Sibley
authors.forename: P
authors.initials: P
authors.lastname: Stern
authors.forename: M A
authors.initials: MA
authors.lastname: Knowles
mesh_terms: D002277:Carcinoma / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014407:Tumor Cells, Cultured; D001749:Urinary Bladder Neoplasms / Q000235:genetics; D002583:Uterine Cervical Neoplasms / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3