Gene Variant Detail

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Gene FGFR2
Variant C382R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 C382R (also referred to as C383R) lies within the helical domain of the Fgfr2 protein (UniProt.org). C382R results in proliferation similar to wild-type Fgfr2 in a competition assay (PMID: 34272467), but confers a gain of function on the Fgfr2 protein, as demonstrated by constitutive MAPK pathway activation (PMID: 24993163), and transformation of cells in culture (PMID: 24993163, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 C382R

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Transcript NM_000141.5
gDNA chr10:g.121515260A>G
cDNA c.1144T>C
Protein p.C382R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 C382R Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 C382R Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 C382R Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 C382R Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 C382R Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 C382R Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 C382R were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 C382R cholangiocarcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a Phase I trial (FIGHT-101), Pemazyre (pemigatinib) treatment led to a partial response in a cholangiocarcinoma patient harboring FGFR2 C382R (PMID: 35176457; NCT02393248). 35176457
FGFR2 C382R cholangiocarcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-207), Pemazyre (pemigatinib) treatment resulted in a partial response with a 49.7% decrease in target lesion and a progression-free survival of 6 months in a patient with cholangiocarcinoma harboring FGFR2 C382R (Cancer Res (2023) 83 (8_Supplement): CT016; NCT03822117). detail...
FGFR2 C382R intrahepatic cholangiocarcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a clinical case study, Pemazyre (pemigatinib) treatment resulted in complete metabolic remission in a patient with metastatic intrahepatic cholangiocarcinoma harboring FGFR2 C382R (PMID: 36188486). 36188486
FGFR2 C382R breast cancer predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited growth of mouse mammary epithelial cells expressing FGFR2 C287R (corresponding to C382R in human) in culture (PMID: 35948633). 35948633
FGFR2 C382R breast cancer predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 C287R (corresponding to C382R in human) in culture (PMID: 35948633). 35948633
FGFR2 C382R endometrial cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in partial response in two patients with endometrial cancer harboring FGFR2 C382R, with a duration of response of 23.72 months and 2.79 months, respectively (PMID: 37541273; NCT04083976). 37541273
FGFR2 C382R breast 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 14.32 months in a patient with breast cancer harboring FGFR2 C382R (PMID: 37541273; NCT04083976). 37541273
FGFR2 C382R cholangiocarcinoma 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 15.11 months in a patient with cholangiocarcinoma harboring FGFR2 C382R (PMID: 37541273; NCT04083976). 37541273
FGFR2 C382R head and neck squamous cell carcinoma 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 2.79 months in a patient with squamous cell head and neck cancer harboring FGFR2 C382R (PMID: 37541273; NCT04083976). 37541273
FGFR2 C382R cholangiocarcinoma no benefit Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) did not decrease viability of a cholangiocarcinoma cell line expressing FGFR2 C382R in culture (PMID: 37964396). 37964396
FGFR2 C382R cholangiocarcinoma predicted - sensitive Tinengotinib Case Reports/Case Series Actionable In a Phase I trial, Tinengotinib (TT-00420) treatment was well tolerated and resulted in stable disease in 53.3% (23/43) and partial response in 16.3% (7/43) of patients with advanced solid tumors, including a partial response in a patient with cholangiocarcinoma harboring FGFR2 C382R (PMID: 38297981; NCT03654547). 38297981