TY - JOUR
T1 - No evidence of somatic FGFR3 mutation in various types of carcinoma
AU - Karoui, Mehdi
AU - Hofmann-Radvanyi, Hélène
AU - Zimmermann, Ute
AU - Couvelard, Anne
AU - Degott, Claude
AU - Faridoni-Laurens, Laetitia
AU - Ahomadegbe, Jean Charles
AU - Gazzeri, Sylvie
AU - Brambilla, Elisabeth
AU - Clerici, Thierry
AU - Charbonnier, Peggy
AU - Tresallet, Christophe
AU - Mitry, Emmanuel
AU - Penna, Christophe
AU - Rougier, Philippe
AU - Boileau, Catherine
AU - Thiery, Jean Paul
AU - Nordlinger, Bernard
AU - Franc, Brigitte
AU - Radvanyi, François
PY - 2001/8/16
Y1 - 2001/8/16
N2 - Germline specific point mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal dysplasia and craniosynostosis syndromes. Mutations identical to the germinal activating mutations found in severe skeletal dysplasias have been identified in certain types of cancer: at low frequency in multiple myeloma and cervix carcinoma and at high frequency in bladder carcinoma. We analysed, by SSCP and sequencing, the prevalence of FGFR3 mutations in 116 primary tumours of various types (upper aerodigestive tract, oesophagus, stomach, lung and skin). The regions analysed encompassed all FGFR3 point mutations previously described in severe skeletal dysplasia and cancers. No mutations were detected in the tumour types examined, suggesting that FGFR3 mutations are restricted to a few tumour types, the evidence to date suggesting that they are very specific to bladder carcinomas.
AB - Germline specific point mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal dysplasia and craniosynostosis syndromes. Mutations identical to the germinal activating mutations found in severe skeletal dysplasias have been identified in certain types of cancer: at low frequency in multiple myeloma and cervix carcinoma and at high frequency in bladder carcinoma. We analysed, by SSCP and sequencing, the prevalence of FGFR3 mutations in 116 primary tumours of various types (upper aerodigestive tract, oesophagus, stomach, lung and skin). The regions analysed encompassed all FGFR3 point mutations previously described in severe skeletal dysplasia and cancers. No mutations were detected in the tumour types examined, suggesting that FGFR3 mutations are restricted to a few tumour types, the evidence to date suggesting that they are very specific to bladder carcinomas.
KW - Carcinoma
KW - FGFR3
KW - Growth factor receptor
KW - Oncogene
UR - http://www.scopus.com/inward/record.url?scp=17944373020&partnerID=8YFLogxK
U2 - 10.1038/sj.onc.1204651
DO - 10.1038/sj.onc.1204651
M3 - Article
C2 - 11526491
AN - SCOPUS:17944373020
SN - 0950-9232
VL - 20
SP - 5059
EP - 5061
JO - Oncogene
JF - Oncogene
IS - 36
ER -