FGFR1 C379R: Gene Variant Detail - Cancer Knowledgebase (CKB)

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Gene	FGFR1
Variant	C379R
Impact List	missense
Protein Effect	gain of function
Gene Variant Descriptions	FGFR1 C379R (corresponds to C381R in the canonical isoform) lies within the transmembrane domain of the Fgfr1 protein (PMID: 26272615). C379R results in a gain of function, as demonstrated by constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615).
Associated Drug Resistance
Category Variants Paths	FGFR1 mutant FGFR1 act mut FGFR1 C379R

Variant Reference Transcript
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Transcript	NM_015850.4
gDNA	chr8:g.38419676A>G
cDNA	c.1135T>C
Protein	p.C379R
Source Database	RefSeq
Genome Build	GRCh38/hg38

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Showing 1 to 22 of 22 entries

Transcript	gDNA	cDNA	Protein	Source Database	Genome Build
NM_001174065	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001174065.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001174065.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001354367.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001354367.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001354369.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001354369.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_001410922.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_015850	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_015850.3	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
NM_015850.4	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_006716306	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_006716307	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_006716307.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_006716307.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013223	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013224	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013224.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013225	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013225.2	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_017013225.3	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38
XM_047421569.1	chr8:g.38419676A>G	c.1135T>C	p.C379R	RefSeq	GRCh38/hg38

Showing 1 to 22 of 22 entries

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Showing 1 to 27 of 27 entries

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
FGFR1 act mut	salivary gland cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with unresectable locally advanced, recurrent, or metastatic salivary gland tumors harboring FGFR mutations or fusions (category 2B) who received prior systemic therapy and have no alternative systemic therapy available (NCCN.org).	detail...
FGFR1 act mut	maxillary sinus cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with maxillary sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	supraglottis cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with supraglottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	oropharynx cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oropharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	hypopharynx cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with hypopharynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	lung non-small cell carcinoma	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with metastatic non-small cell lung cancer harboring oncogenic or likely oncogenic FGFR alterations (NCCN.org).	detail...
FGFR1 act mut	ethmoid sinus cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with ethmoid sinus cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	breast cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines for patients with stage IV (M1) breast cancer harboring FGFR fusion or mutations (NCCN.org).	detail...
FGFR1 act mut	glottis cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with glottic larynx cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	oral cavity cancer	sensitive	Erdafitinib	Guideline	Actionable	Balversa (erdafitinib) is included in guidelines as subsequent-line therapy (category 2B) for patients with oral cavity cancer harboring FGFR mutations or fusions and with no alternative options (NCCN.org).	detail...
FGFR1 act mut	Advanced Solid Tumor	predicted - sensitive	Erdafitinib	Phase II	Actionable	In a Phase II trial (RAGNAR), Balversa (erdafitinib) treatment resulted in an objective response rate of 29.5% (64/217, 6 complete and 58 partial responses), a disease control rate of 74%, clinical benefit rate of 46%, a median duration of response of 6.9 months, median progression-free survival of 4.2 months, and median overall survival of 10.7 months in patients with advanced solid tumors harboring FGFR1, FGFR2, or FGFR3 mutations or fusions (PMID: 37541273; NCT04083976).	37541273
FGFR1 mutant	transitional cell carcinoma	predicted - sensitive	Erdafitinib	Phase II	Actionable	In a Phase II trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 42% (40/96, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (J Clin Oncol 36, 2018 (suppl; abstr 4503); NCT02365597).	detail...
FGFR1 act mut	transitional cell carcinoma	no benefit	Derazantinib	Phase Ib/II	Actionable	In a Phase I/II trial (FIDES-02), Derazantinib (ARQ 087) treatment was well tolerated but demonstrated limited efficacy in patients with urothelial carcinoma harboring FGFR1 (n=4), FGFR2 (n=7), or FGFR3 (n=35) mutations or FGFR3 fusions (n=6), with an objective response rate of 8.2% (4/49, all partial responses) and disease control rate of 30.6% (15/49) by independent central review (PMID: 38627238; NCT04045613).	38627238
FGFR1 act mut	Advanced Solid Tumor	predicted - sensitive	Erdafitinib	Phase I	Actionable	In a Phase I trial, Balversa (erdafitinib) treatment resulted in stable disease in 70% (16/23) and partial response in 22% (5/23) of patients with advanced solid tumors harboring FGFR 1-4 activating mutations (including amplifications, mutations and translocations), while no antitumor activity was observed in patients with unknown or no known changes in FGFR (PMID: 26324363; NCT01703481).	26324363
FGFR1 act mut	Advanced Solid Tumor	sensitive	Zoligratinib	Phase I	Actionable	In a Phase I trial, Debio 1347 (CH5183284) dosing regimen has been determined in solid tumor patients with activating FGFR1 alterations (JCO, Vol 33, No 15_suppl (May 20 Supplement), 2015: 2540).	detail...
FGFR1 mutant	Advanced Solid Tumor	predicted - sensitive	Zoligratinib	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
FGFR1 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...
FGFR1 act mut	central nervous system benign neoplasm	predicted - sensitive	Erdafitinib	Case Reports/Case Series	Actionable	In a Phase II trial (MATCH), Balversa (erdafitinib) was tolerated and resulted in a partial response (PR) in 10% (2/20) and stable disease (SD) in 30% (6/20) of heavily pre-treated pediatric patients with low-grade gliomas or glioneuronal tumors harboring activating mutations in FGFR1 (n=16), FGFR2 (n=1), FGFR4 (n=1), or FGFR1 fusions (n=2), with a 6-mo overall survival rate of 89.7%, 2 PR and 4 SD were observed in patients with FGFR1 mutations (J Clin Oncol 41, 2023 (suppl 16; abstr 10007); NCT03210714).	detail...
FGFR1 act mut	low grade glioma	predicted - sensitive	Erdafitinib	Case Reports/Case Series	Actionable	In a Phase II trial (MATCH), Balversa (erdafitinib) was tolerated and resulted in a partial response (PR) in 10% (2/20) and stable disease (SD) in 30% (6/20) of heavily pre-treated pediatric patients with low-grade gliomas or glioneuronal tumors harboring activating mutations in FGFR1 (n=16), FGFR2 (n=1), FGFR4 (n=1), or FGFR1 fusions (n=2), with a 6-mo overall survival rate of 89.7%, 2 PR and 4 SD were observed in patients with FGFR1 mutations ( (J Clin Oncol 41, 2023 (suppl 16; abstr 10007); NCT03210714).	detail...
FGFR1 mutant	Advanced Solid Tumor	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, FGFR2, or FGFR3 mutations or fusions (PMID: 38603650; NCT02465060).	38603650
FGFR1 mutant	Advanced Solid Tumor	sensitive	Pemigatinib	Preclinical - Cell line xenograft	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...
FGFR1 act mut	Advanced Solid Tumor	decreased response	Cediranib	Preclinical	Actionable	In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to inhibition of receptor phosphorylation and cell proliferation by Cediranib (AZD-2171) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366).	22238366
FGFR1 act mut	Advanced Solid Tumor	sensitive	Dovitinib	Preclinical	Actionable	In a preclinical study, Dovitinib (TKI258) inhibited receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366).	22238366
FGFR1 act mut	Advanced Solid Tumor	no benefit	Brivanib	Preclinical	Actionable	In a preclinical study, Brivanib (BMS-540215) did not inhibit receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366).	22238366
FGFR1 act mut	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, Iclusig (ponatinib) inhibited receptor phosphorylation and cell growth in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366).	22238366
FGFR1 act mut	breast cancer	sensitive	FIIN-1	Preclinical	Actionable	In a preclinical study, FIIN-1 inhibited Fgfr1 activation-induced proliferation and transformation of human breast epithelial cell lines in culture (PMID: 20338520).	20338520
FGFR1 act mut	Advanced Solid Tumor	decreased response	Nintedanib	Preclinical	Actionable	In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to Ofev (Nintedanib) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366).	22238366

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FGFR1 C379R - Gene Variant Detail

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