FGFR1
CIViC ID: 1885 · Entrez: 2260
Aliases: BFGFR,CD331,CEK,FGFBR,FGFR-1,FLG,FLT-2,FLT2,HBGFR,HH2,HRTFDS,KAL2,N-SAM,OGD,bFGF-R-1,ECCL,FGFR1
Description
FGFR1 is a member of the Fibroblast Growth Factor family, comprising of 4 receptors and 18 Ligands. FGFR1 signalling downstream functions mainly via PI3K and MAPK pathways (Turner et. al.). Several ways of involvement of FGFR1 in cancer have been proposed: auto- and paracrine activation, amplification and overexpression (Marshall et. al, Weiss et. al., Cheng et. al.). Especially amplification of FGFR1 in lung cancer is an emerging treatment target with clinical studies currently ongoing (e.g. NCT01004224). However, FGFR1 amplification does not always correlate with protein expression and predictive biomarkers still remain to be defined in clinic (von Mässenhausen et. al.). Mutation of FGFR1 seems to be less common, but has been described in glioblastoma, pilocytic astrocytomas and Ewing's sarcoma (Rand et. al., Jones et. al., Agelopoulos et. al.).
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (6)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 267 | Amplification | transcript_amplification | |
| 268 | Expression | ||
| 2659 | Internal Duplication | ||
| 515 | N546K ASN546LYS,RS779707422 | NM_023110.2:c.1638C>A,NP_075598.2:p.Asn546Lys,ENST00000341462.5:c.1638C>A,NC_000008.10:g.38274849G>T | missense_variant |
| 2904 | Overexpression | ||
| 4500 | Translocation |