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Gene | FGFR2 |
Variant | Y375C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 Y375C lies within the extracellular juxtamembrane domain of the Fgfr2 protein (PMID: 17525745). Y375C results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but constitutive phosphorylation of Fgfr2 in cell culture, activation of Mapk p38 signaling, and abnormal proliferation and differentiation in the skin and skull of transgenic mouse models (PMID: 22585574). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 Y375C |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515280T>C |
cDNA | c.1124A>G |
Protein | p.Y375C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.2 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 Y375C FGFR2 amp | triple-receptor negative breast cancer | sensitive | Futibatinib | Preclinical - Pdx | Actionable | In a preclinical study, Lytgobi (furibatinib) inhibited viability of cells derived from a patient-derived xenograft (PDX) model of FGFR2-amplified triple-negative breast cancer harboring FGFR2 Y375C in culture and induced tumor regression and improved survival in the patient-derived xenograft (PDX) model (PMID: 37980453). | 37980453 |
FGFR2 Y375C FGFR2 amp | triple-receptor negative breast cancer | sensitive | Pemigatinib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells derived from a patient-derived xenograft (PDX) model of FGFR2-amplified triple-negative breast cancer harboring FGFR2 Y375C in culture (PMID: 37980453). | 37980453 |