Abstract
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.
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Acknowledgements
We thank Prs François René Pruvot, Jacques Belghiti, Olivier Farges, Jean Bénard, François Janot, Christian Brambilla and Philippe Saïag for their invaluable contribution to this work. This work was supported by grants from the Comité de Paris Ligue Nationale Contre le Cancer (UMR 144, laboratoire associé), the CNRS, the Institut Curie, and the Groupement des Entreprises Françaises dans la Lutte contre le Cancer (HR).
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Karoui, M., Hofmann-Radvanyi, H., Zimmermann, U. et al. No evidence of somatic FGFR3 mutation in various types of carcinoma. Oncogene 20, 5059–5061 (2001). https://doi.org/10.1038/sj.onc.1204651
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DOI: https://doi.org/10.1038/sj.onc.1204651
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