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
Category Variants Paths

FGFR2 mutant FGFR2 S252W

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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_001144917.1 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_001320658 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_022970.3 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_001144913 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_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

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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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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