FGFR3 G380R

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Bladder Neoplasm1
FGFR3 G380R	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID10490 Targeted mutation analysis on the FGFR3 gene in 297 bladder cancer patients was conducted, where 177 patients were found to harbor FGFR3 mutations. One patient was found to harbor a novel G380R mutati… (full text at CIViC) PMID 12461689 · van Rhijn et al., 2002 · Open in CIViC	civic
Malignant Neoplasm1
FGFR3 G380R	(oncogenic)	Oncogenic	D	Supports Oncogenicity	3	accepted	EID12847 The transmembrane domain mutation G380R was tested in a series of assays for an evaluation of oncogenicity. G380R was stably transfected into 3T3 cells along with WT controls. TAS (Transformation Ac… (full text at CIViC) PMID 34272467 ·

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Malignant Bladder Neoplasm1

FGFR3 G380R

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID10490

Targeted mutation analysis on the FGFR3 gene in 297 bladder cancer patients was conducted, where 177 patients were found to harbor FGFR3 mutations. One patient was found to harbor a novel G380R mutati… (full text at CIViC)

PMID 12461689 · van Rhijn et al., 2002 · Open in CIViC

civic

Malignant Neoplasm1

FGFR3 G380R

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID12847

The transmembrane domain mutation G380R was tested in a series of assays for an evaluation of oncogenicity. G380R was stably transfected into 3T3 cells along with WT controls. TAS (Transformation Ac… (full text at CIViC)

PMID 34272467 ·

Transitional Cell Carcinoma1
FGFR3 G380R	Infigratinib	Predictive	C	Supports Sensitivity Response	2	submitted	EID6413 In this one-arm study, 67 patients with metastastic urothelial carcinoma and diverse FGFR3 alterations were treated with pan-FGFR Inhibitor BGJ398. The majority of patients (70.1%) had received two or… (full text at CIViC) PMID 29848605 · Pal et al., 2018 · Open in CIViC	civic

Transitional Cell Carcinoma1

FGFR3 G380R

Infigratinib

Predictive

Supports Sensitivity Response

submitted

EID6413

In this one-arm study, 67 patients with metastastic urothelial carcinoma and diverse FGFR3 alterations were treated with pan-FGFR Inhibitor BGJ398. The majority of patients (70.1%) had received two or… (full text at CIViC)

PMID 29848605 · Pal et al., 2018 · Open in CIViC

civic

Unmapped disease6unmapped disease
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	3	accepted	EID10368 G380R mutation was created in the transmembrane region of murine FGFR3 to study its effect. An in vitro kinase assay using 293 human cells found the mutant FGFR3 to be expressed at levels similar or s… (full text at CIViC) PMID 9136983 · Li et al., 1997 · Open in CIViC	civic
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10384 In CFK2 chondrocytic cell line model, cells with the G380R variant in FGFR3 showed growth retardation in comparison to the cells expressing the wild type receptor. Cells with the mutant receptor grew … (full text at CIViC) PMID 10646125 · Henderson et al., 2000 · Open in CIViC	civic
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	3	accepted	EID10396 While receptor tyrosine kinases (RTKs) like FGFR3 form both homodimers and heterodimers (often in the same family), heterodimerization of RTKs is considered to be a method of greater receptor activati… (full text at CIViC) PMID 27927983 · Del Piccolo et al., 2017 · Open in CIViC	civic
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10403 The G380R variant of FGFR3 was studied in the context of being a known genetic cause for achondroplasia (dwarfism). The authors performed Western blots using HEK 293 cells and antibodies capable of de… (full text at CIViC) PMID 20624921 · He et al., 2010 · Open in CIViC	civic
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	1	accepted	EID10415 A patient's biopsy, which was the common soft subtype of keratinocytic epidermal nevi, displayed a double mutation of both FGFR3 G372C (aka G370C) and G382R (aka G380R). The nevus from which the biops… (full text at CIViC) PMID 16841094 · Hafner et al., 2006 · Open in CIViC	civic
FGFR3 G380R	(functional)	Functional	D	Supports Gain Of Function	2	accepted	EID10416 Achondroplasia associated FGFR3 mutant G380R (ACH), K650E (TDII), and wildtype (WT) FGFR3 constructs were cloned and transfected into NIH3T3 cells, and immunopercipitated with anti-FGFR3. In vitro ki… (full text at CIViC) PMID 8754806 · Webster et al., 1996 · Open in CIViC	civic

Unmapped disease6unmapped disease

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

accepted

EID10368

G380R mutation was created in the transmembrane region of murine FGFR3 to study its effect. An in vitro kinase assay using 293 human cells found the mutant FGFR3 to be expressed at levels similar or s… (full text at CIViC)

PMID 9136983 · Li et al., 1997 · Open in CIViC

civic

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

submitted

EID10384

In CFK2 chondrocytic cell line model, cells with the G380R variant in FGFR3 showed growth retardation in comparison to the cells expressing the wild type receptor. Cells with the mutant receptor grew … (full text at CIViC)

PMID 10646125 · Henderson et al., 2000 · Open in CIViC

civic

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

accepted

EID10396

While receptor tyrosine kinases (RTKs) like FGFR3 form both homodimers and heterodimers (often in the same family), heterodimerization of RTKs is considered to be a method of greater receptor activati… (full text at CIViC)

PMID 27927983 · Del Piccolo et al., 2017 · Open in CIViC

civic

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

submitted

EID10403

The G380R variant of FGFR3 was studied in the context of being a known genetic cause for achondroplasia (dwarfism). The authors performed Western blots using HEK 293 cells and antibodies capable of de… (full text at CIViC)

PMID 20624921 · He et al., 2010 · Open in CIViC

civic

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

accepted

EID10415

A patient's biopsy, which was the common soft subtype of keratinocytic epidermal nevi, displayed a double mutation of both FGFR3 G372C (aka G370C) and G382R (aka G380R). The nevus from which the biops… (full text at CIViC)

PMID 16841094 · Hafner et al., 2006 · Open in CIViC

civic

FGFR3 G380R

(functional)

Functional

Supports Gain Of Function

accepted

EID10416

Achondroplasia associated FGFR3 mutant G380R (ACH), K650E (TDII), and wildtype (WT) FGFR3 constructs were cloned and transfected into NIH3T3 cells, and immunopercipitated with anti-FGFR3. In vitro ki… (full text at CIViC)

PMID 8754806 · Webster et al., 1996 · Open in CIViC

civic

Evidence by cancer (9 items)

Clinical significance (0)