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Gene | FGFR1 |
Variant | M532T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 M532T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M532T has been identified in the scientific literature (PMID: 38986210, PMID: 36446043), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 M532T |
Transcript | NM_023110.3 |
gDNA | chr8:g.38417374A>G |
cDNA | c.1595T>C |
Protein | p.M532T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001174065.2 | chr8:g.38417368A>G | c.1595T>C | p.M532T | RefSeq | GRCh38/hg38 |
NM_015850.4 | chr8:g.38417368A>G | c.1595T>C | p.M532T | RefSeq | GRCh38/hg38 |
NM_001354367.2 | chr8:g.38417368A>G | c.1595T>C | p.M532T | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38417368A>G | c.1595T>C | p.M532T | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38417374A>G | c.1595T>C | p.M532T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR1 M532T | transitional cell carcinoma | predicted - sensitive | Pembrolizumab + Pemigatinib | Case Reports/Case Series | Actionable | In a Phase I trial (FIGHT-101), treatment with the combination of Pemazyre (pemigatinib) and Keytruda (pembrolizumab) demonstrated safety in patients with advanced solid tumors and resulted in an objective response rate of 26.9% (7/26, all partial responses), including a partial response with a duration of response of 6.5 months in a patient with urothelial cancer harboring FGFR1 M532T (PMID: 38986210; NCT02393248). | 38986210 |