Gene Variant Detail

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Gene FGFR2
Variant S252W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 S252W lies within the extracellular domain of the Fgfr2 protein (UniProt.org). The functional effect of S252W is conflicting as it results in loss of ligand specificity, increased Fgfr2 activation, and is transforming in cell culture (PMID: 11121055, PMID: 18552176) but results in a growth advantage relative to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type Fgfr2 in cultured cells in another study (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance

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Transcript NM_000141.4
gDNA chr10:g.121520163G>C
cDNA c.755C>G
Protein p.S252W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.3 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_000141 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_022970 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 S252W Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with Futibatinib (TAS-120) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W endometrial carcinoma sensitive GSK3052230 Preclinical - Cell line xenograft Actionable In a preclinical study, GSK3052230 (FP-1039) treatment resulted in greater tumor growth inhibition (95% vs 30%) in cell line xenograft models of endometrial carcinoma harboring FGFR2 S252W compared to FGFR2 wild-type models (PMID: 23536011). 23536011
FGFR2 S252W endometrial cancer sensitive Debio 1347 Preclinical - Cell line xenograft Actionable In a preclinical study, Debio 1347 inhibited proliferation of endometrial cancer cells harboring an FGFR2 S252W mutation in culture and inhibited tumor growth in FGFR2 S252W-positive endometrial cancer cell line xenograft models (PMID: 25169980). 25169980
FGFR2 S252W endometrial cancer sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 S252W (PMID: 18552176) demonstrated sensitivity to E7090 in culture, resulting in decreased cell viability (PMID: 27535969). 18552176 27535969
FGFR2 S252W Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W endometrial cancer sensitive Nintedanib Preclinical Actionable In a preclinical study, Ofev (Nintedanib) inhibited cell proliferation in endometrial cancer cells harboring FGFR2 S252W mutation in culture (PMID: 22238366). 22238366
FGFR2 S252W Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W endometrial cancer sensitive Derazantinib Preclinical - Cell culture Actionable In a preclinical study, Derazantinib (ARQ 087) inhibited growth of endometrial cancer cells harboring FGFR2 S252W in culture (PMID: 27627808). 27627808
FGFR2 S252W endometrial cancer sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and cell proliferation in endometrial cancer cells harboring FGFR2 S252W in culture (PMID: 22238366). 22238366
FGFR2 S252W endometrial cancer sensitive Brivanib Preclinical Actionable In a preclinical study, Brivanib (BMS-540215) inhibited growth of endometrial cancer cells harboring FGFR2 S252W in culture (PMID: 22238366). 22238366
FGFR2 S252W endometrial carcinoma decreased response RO4987655 Preclinical - Cell culture Actionable In a preclinical study, endometrial carcinoma cells harboring FGFR2 S252W demonstrated decreased response to RO4987655 in culture (PMID: 26438159). 26438159
FGFR2 S252W Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W endometrial cancer predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Futibatinib (TAS-120) treatment led to inhibition of cell proliferation in an endometrial cancer cell line harboring FGFR2 S252W in culture (PMID: 32973082). 32973082
FGFR2 S252W endometrial cancer decreased response AZD4547 Preclinical - Cell culture Actionable In a preclinical study, endometrial cells harboring Fgfr2 S252W were less sensitive to the anti-proliferative effects of AZD4547 than the Fgfr2 double mutant, K310R, N550K (PMID: 26294741). 26294741
FGFR2 S252W endometrial carcinoma sensitive RO5126766 Preclinical - Cell culture Actionable In a preclinical study, RO5126766 inhibited proliferation of endometrial carcinoma cells harboring FGFR2 S252W in culture (PMID: 26438159). 26438159
FGFR2 S252W endometrial cancer decreased response Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) did not potently inhibit cell proliferation in endometrial cancer cells harboring FGFR2 S252W mutation in culture (PMID: 22238366). 22238366
FGFR2 S252W Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W Advanced Solid Tumor conflicting Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 S252W Advanced Solid Tumor conflicting Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 S252W were sensitive to Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 S252W endometrial cancer sensitive Cediranib Preclinical Actionable In a preclinical study, Cediranib (AZD-2171) inhibited growth of endometrial cancer cells harboring FGFR2 S252W in culture (PMID: 22238366). 22238366
FGFR2 S252W Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 S252W were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 S252W endometrial carcinoma decreased response Selumetinib Preclinical - Cell culture Actionable In a preclinical study, endometrial carcinoma cells harboring FGFR2 S252W demonstrated decreased sensitivity to Selumetinib (AZD-6244) in culture (PMID: 26438159). 26438159
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 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 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 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 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 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 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
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...
Molecular Profile Protein Effect Treatment Approaches
FGFR2 S252W unknown FGFR Inhibitor (Pan) FGFR2 Inhibitor