FGFR1
Pathology
germ-line mutations
- in Pfeiffer syndrome (MIM.101600)
- in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
- in osteoglophonic dysplasia
- isolated trigonocephaly (MIM.190440)
- isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
- BCR/FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
- CEP1/FGFR1 by t(8;9)(p12;q33) in stem cell myeloproliferative disorder (MPD) (CEP1 at 9q33 and FGFR1 at 8p12) (10688839)
FGFR1 over-expression in rhabdomyosarcomas
- by FGFR1 amplification (8p11 amplification) in pleomorphic rhabdomyosarcoma (PRMS) (16790082)
- by hypomethylation(17696196)
FGFR1 is a marker of human prostate cancer progression (17137506)
See also
References
Goldstein M, Meller I, Orr-Urtreger A. FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5’ CpG Island and abnormal expression of the AKT1, NOG, and BMP4 genes. Genes Chromosomes Cancer. 2007 Aug 15; PMID: 17696196
Devilard E, Bladou F, Ramuz O, Karsenty G, Dales JP, Gravis G, Nguyen C, Bertucci F, Xerri L, Birnbaum D. FGFR1 and WT1 are markers of human prostate cancer progression. BMC Cancer. 2006 Nov 30;6:272. PMID: 17137506