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Gene | FGFR2 |
Variant | N550K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N550K (corresponds to N549K in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550K results in increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N550K |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498520A>C |
cDNA | c.1650T>G |
Protein | p.N550K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144914 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487991A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121488063A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498520A>C | c.1650T>G | p.N550K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | AZD4547 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, AZD4547 inhibited proliferation of endometrial cancer cells harboring an FGFR2 K310R/N550K double mutation in culture and delayed tumor growth in xenograft models (PMID: 26294741). | 26294741 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | AZD4547 | Preclinical - Cell culture | Actionable | In a preclinical study, AZD4547 treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 N550K and K310R in culture (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | Infigratinib + Navitoclax | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Truseltiq (infigratinib) and Navitoclax (ABT-263) combination treatment enhanced apoptosis, and inhibited tumor growth and induced regression in a cell line xenograft model of endometrial cancer harboring FGFR2 K310R and N550K compared to either agent alone (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | Infigratinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Truseltiq (infigratinib) treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 N550K and K310R in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | PD173074 | Preclinical - Cell culture | Actionable | In a preclinical study, PD173074 treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 N550K and K310R in culture (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | ABT-737 + AZD4547 | Preclinical - Cell culture | Actionable | In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K and K310R demonstrated increased cell death following treatment with AZD4547 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | ABT-737 + Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K and K310R demonstrated increased cell death following treatment with Truseltiq (infigratinib) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). | 30537101 |
FGFR2 K310R FGFR2 N550K | endometrial cancer | sensitive | ABT-737 + PD173074 | Preclinical - Cell culture | Actionable | In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K and K310R demonstrated increased cell death following treatment with PD173074 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). | 30537101 |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Infigratinib + Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Pictilisib (GDC-0941) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Buparlisib + Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Buparlisib (BKM120) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | endometrial cancer | sensitive | Alpelisib + Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Truseltiq (infigratinib) and Alpelisib (BYL719) resulted in a synergistic effect, demonstrating inhibition of cell proliferation and induced cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). | 28119489 |
FGFR2 C383R FGFR2 N550K | endometrial cancer | resistant | PD173074 | Preclinical | Actionable | In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R and expressing FGFR2 N550K demonstrated resistance when treated with PD173074 (PMID: 23908597). | 23908597 |
FGFR2 fusion FGFR2 N550K | intrahepatic cholangiocarcinoma | resistant | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550K were resistant to treatment as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 N550K | intrahepatic cholangiocarcinoma | resistant | Debio 1347 | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550K were resistant to treatment, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 N550K | intrahepatic cholangiocarcinoma | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550K were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). | 31109923 |
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K | intrahepatic cholangiocarcinoma | predicted - resistant | LY3214996 | Case Reports/Case Series | Actionable | In a clinical case study, acquired NRAS Q61K and FGFR2 N550K mutations were identified following progression on LY3214996 in an intrahepatic cholangiocarcinoma patient harboring BRAF L597Q, FGFR2 H167_N173del, and FGFR2 L618F (PMID: 33926920). | 33926920 |