Gene Variant Detail

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Gene FGFR2
Variant Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 Y375C lies within the extracellular juxtamembrane domain of the Fgfr2 protein (PMID: 17525745). Y375C results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but constitutive phosphorylation of Fgfr2 in cell culture, activation of Mapk p38 signaling, and abnormal proliferation and differentiation in the skin and skull of transgenic mouse models (PMID: 22585574).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 Y375C

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Transcript NM_000141.5
gDNA chr10:g.121515280T>C
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 Y375C salivary gland carcinoma predicted - sensitive RLY-4008 Case Reports/Case Series Actionable In a Phase I/II trial (ReFocus), RLY-4008 treatment resulted in a partial response with near complete resolution of liver metastases, and regression of lung and adrenal metastases in a patient with metastatic carcinoma of the right parotid salivary gland harboring FGFR2 Y375C (PMID: 37270847; NCT04526106). 37270847
FGFR2 Y375C salivary gland cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a complete response with a duration of response of 5.75 months in one patient and a partial response with a duration of response of 13.47 months in another patient, both with salivary gland cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C lung non-squamous non-small cell carcinoma predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a complete response with a duration of response of 5.59 months in a patient with non-squamous non-small cell lung cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C endometrial cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a partial response with a duration of response of 6.9 months in a patient with endometrial cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C breast cancer sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited Fgfr2 signaling and viability in breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, Balversa (erdafitinib) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C cholangiocarcinoma sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited viability of a cholangiocyte cell line harboring FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453