Gene Variant Detail

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Gene FGFR2
Variant S252W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 S252W lies within the extracellular domain of the Fgfr2 protein (UniProt.org). S252W results in a growth advantage relative to wild-type Fgfr2 in a competition assay and transformation activity similar to overexpressed Fgfr2 in cultured cells (PMID: 34272467), and results in loss of ligand specificity, increased Fgfr2 phosphorylation, increased FGF7-stimulated shedding of HB-EGF, and is transforming in cell culture (PMID: 11121055, PMID: 18552176, PMID: 37759450), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 S252W

FGFR2 mutant FGFR2 exon7 FGFR2 S252W

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Transcript NM_000141.5
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 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_001320658 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_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_001144917.2 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_022970.4 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_001144917.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658.2 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_000141.5 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 endometrial cancer decreased response Fexagratinib 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 Advanced Solid Tumor predicted - sensitive Fexagratinib 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 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 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 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 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 gallbladder adenocarcinoma predicted - sensitive Pazopanib Case Reports/Case Series Actionable In a clinical case study, Votrient (pazopanib) treatment resulted in stable disease lasting over 2 years in a patient with metastatic gallbladder adenocarcinoma harboring FGFR2 S252W (PMID: 36307559). 36307559
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 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 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
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 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 endometrial cancer sensitive Zoligratinib 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 adenoid cystic carcinoma predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (MATCH), Balversa (erdafitinib) treatment resulted in an objective response rate of 16% (4/25), median progression-free survival of 3.6 months, and median overall survival of 11.0 months in patients with advanced solid tumors harboring FGFR1-3 mutations or fusions, including a partial response in a patient with adenoid cystic carcinoma of the submandibular gland harboring FGFR2 S252W (PMID: 38603650; NCT02465060). 38603650
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 predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) treatment led to inhibition of cell proliferation in an endometrial cancer cell line harboring FGFR2 S252W in culture (PMID: 32973082). 32973082
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 Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
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 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 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 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 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 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