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| Gene | FGFR2 |
| Variant | E768* |
| Impact List | nonsense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 E768* results in a premature truncation of the Fgfr2 protein at amino acid 768 of 821 (UniProt.org). E768* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (E673*) activates FGFR2 signaling and promotes colony formation in cell culture, and leads to tumor formation in a mouse model (PMID: 35948633). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E768* |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121480021C>A |
| cDNA | c.2302G>T |
| Protein | p.E768* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144913.1 | chr10:g.121483700C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121480021C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121480021C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121483700C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 E768* | breast cancer | predicted - sensitive | Fexagratinib | Preclinical | Actionable | In a preclinical study, Fexagratinib (AZD4547) inhibited FGFR2 signaling and growth in mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture and inhibited tumor growth in an orthotopic model (PMID: 35948633). | 35948633 |
| FGFR2 E768* | breast cancer | predicted - sensitive | Zoligratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |
| FGFR2 E768* | breast cancer | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |
| FGFR2 E768* | breast cancer | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |