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Gene | FGFR2 |
Variant | R210Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 R210Q lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). R210Q results in decreased proliferation relative to wild-type Fgfr2 in a competition assay but transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 R210Q |
Transcript | NM_000141.4 |
gDNA | chr10:g.121538711C>T |
cDNA | c.629G>A |
Protein | p.R210Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121538711C>T | c.629G>A | p.R210Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 mutant | transitional cell carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). | detail... |
FGFR2 mutant | transitional cell carcinoma | sensitive | Erdafitinib | FDA approved - Has Companion Diagnostic | Actionable | In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). | detail... 31340094 detail... |
FGFR2 mutant | endometrial cancer | sensitive | PRN1371 | Preclinical - Cell culture | Actionable | In a preclinical study, PRN1371 inhibited proliferation of endometrial cancer cells harboring FGFR2 mutations in culture (AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1249). | detail... |
FGFR2 mutant | cholangiocarcinoma | predicted - sensitive | Erdafitinib | Phase I | Actionable | In a Phase I trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 27% (3/11) in patients with cholangiocarcinoma harboring FGFR genomic alterations, including 1 with FGFR2 mutation, 2 with FGFR3 mutations, and 8 with FGFR2 fusions (PMID: 31088831; NCT01703481). | 31088831 |
FGFR2 mutant | intrahepatic cholangiocarcinoma | predicted - sensitive | Derazantinib | Phase II | Actionable | In a Phase II trial (FIDES-01), Derazantinib (ARQ 087) treatment resulted in an objective response rate of 6.5%, a disease control rate of 58.1%, median progression-free survival of 8.3 months, and a median overall survival of 15.9 months in patients with intrahepatic cholangiocarcinoma harboring an FGFR2 mutation or amplification (Ann Oncol (2022) 33 (suppl_7): S19-S26; NCT03230318). | detail... |
FGFR2 mutant | Advanced Solid Tumor | predicted - sensitive | ICP-192 | Phase I | Actionable | In a Phase I trial, ICP-192 (gunagratinib) was well-tolerated, and resulted in an overall response rate or 33.3% (4/12, 1 complete response, 3 partial response) and a disease control rate of 91.7% (11/12) in patients with advanced solid tumors harboring FGF/FGFR gene aberrations (J Clin Oncol 39, 2021 (suppl 15; abstr 4092); NCT03758664). | detail... |
FGFR2 mutant | cholangiocarcinoma | sensitive | Infigratinib | Case Reports/Case Series | Actionable | In a Phase I trial, a patient with cholangiocarcinoma harboring an FGFR2 mutation demonstrated a decreased tumor burden when treated with Truseltiq (infigratinib) (PMID: 27870574). | 27870574 |
FGFR2 mutant | Advanced Solid Tumor | predicted - sensitive | Debio 1347 | Phase I | Actionable | In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). | 30745300 |
FGFR2 mutant | bladder urothelial carcinoma | sensitive | Erdafitinib | Guideline | Actionable | Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). | detail... |
FGFR2 mutant | bladder urothelial carcinoma | sensitive | Erdafitinib | FDA approved - Has Companion Diagnostic | Actionable | In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). | detail... 31340094 detail... |
FGFR2 mutant | Advanced Solid Tumor | sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). | detail... |
FGFR2 mutant | endometrial cancer | sensitive | Infigratinib | Preclinical | Actionable | In a preclinical study, Truseltiq (infigratinib) inhibited the growth of FGFR2-mutated endometrial cancer cells in vitro and in xenograft models (PMID: 23443805). | 23443805 |