FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis
0.010 Biomarker disease BEFREE However, the defect in the epidermal barrier and the resulting inflammatory skin disease that develops in mice lacking FGFR1 and FGFR2 in keratinocytes were further aggravated upon additional loss of FGFR3. 31830366 2020
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.400 GeneticVariation disease BEFREE Herein, we report the first case with cholangiocarcinoma harboring <i>FGFR2-BICC1</i> who is sensitive to sorafenib therapy. 31807010 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The NGS assay showed that the tumor had a <i>FGFR2-BICC1</i> rearrangement. 31807010 2019
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 GeneticVariation disease BEFREE To determine the frequency of the genotype of signal transducer and activator of transcription protein 3 (STAT3) rs744166, sirtuin (SIRT1) rs12778366, fibroblast growth factor (FGFR2) rs2981582, and advanced glycosylation end product-specific receptor (RAGE) rs1800625 gene polymorphisms in patients with laryngeal squamous cell carcinoma (LSCC). 31781300 2019
CUI: C4045991
Disease: Perihilar Cholangiocarcinoma
Perihilar Cholangiocarcinoma
0.010 Biomarker disease BEFREE SPRY4 expression can be induced by ectopic FGFR2 activation in PHCC. 31761616 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation disease BEFREE AA genotype and A allele of P21 and TT genotypes and T allele of FGFR2 were significantly more frequent and were associated with an increased risk of early-onset of breast cancer (95%CI: 2.54 and 1.59; 2.63 and 1.64, respectively). 31759353 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE AA genotype and A allele of P21 and TT genotypes and T allele of FGFR2 were significantly more frequent and were associated with an increased risk of early-onset of breast cancer (95%CI: 2.54 and 1.59; 2.63 and 1.64, respectively). 31759353 2019
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.220 Biomarker disease BEFREE The objective of the study was to investigate expression patterns and transcription levels of FGF8, FGF10, and FGF Receptor 2 (FGFR2) in patients with hypospadias compared to normal controls. 31718875 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.100 Biomarker group BEFREE Patients with hypospadias consistently showed aberrant immunohistochemical staining patterns for FGF8/FGF10/FGFR2 in epidermis and dermis compared to patients without penile malformation (p < 0.01 for all markers). qPCR displayed no difference in expression levels on mRNA level (FGFR2 p = 0.44, FGF8 p = 0.77, and FGF10 p = 0.17) comparing normal foreskin with foreskin from patients with hypospadias.Figure. 31718875 2019
CUI: C0302142
Disease: Deformity
Deformity
0.020 Biomarker group BEFREE Patients with hypospadias consistently showed aberrant immunohistochemical staining patterns for FGF8/FGF10/FGFR2 in epidermis and dermis compared to patients without penile malformation (p < 0.01 for all markers). qPCR displayed no difference in expression levels on mRNA level (FGFR2 p = 0.44, FGF8 p = 0.77, and FGF10 p = 0.17) comparing normal foreskin with foreskin from patients with hypospadias.Figure. 31718875 2019
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
0.020 Biomarker disease BEFREE The objective of the study was to investigate expression patterns and transcription levels of FGF8, FGF10, and FGF Receptor 2 (FGFR2) in patients with hypospadias compared to normal controls. 31718875 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker disease BEFREE We have identified the TAF/FGF5/FGFR2/c-Src/HER2 axis as an escape pathway responsible for HER2 targeted therapies resistance in breast cancer which can be reversed by FGFR inhibitors. 31699826 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE We have identified the TAF/FGF5/FGFR2/c-Src/HER2 axis as an escape pathway responsible for HER2 targeted therapies resistance in breast cancer which can be reversed by FGFR inhibitors. 31699826 2020
CUI: C0266541
Disease: Microphakia
Microphakia
0.010 Biomarker disease BEFREE Mouse lenses lacking FGFR2 exhibit microphakia and reduced ERK and AKT phosphorylation, widespread apoptosis, and defective lens fiber cell differentiation. 31691004 2019
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report. 31640617 2019
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
0.700 GeneticVariation disease BEFREE Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report. 31640617 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. 31640617 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE More sophisticated patient selection strategies would help improve FGFR2-targeted therapies and combination therapy is considered the most promising approach for cancer patients with FGFR2 alterations. 31560229 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE FGFR2 dysregulation occurs in numerous human solid tumors and overexpression is closely associated with tumor progression. 31560229 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE More sophisticated patient selection strategies would help improve FGFR2-targeted therapies and combination therapy is considered the most promising approach for cancer patients with FGFR2 alterations. 31560229 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.040 Biomarker phenotype BEFREE Investigational fibroblast growth factor receptor 2 antagonists in early phase clinical trials to treat solid tumors. 31560229 2019
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
0.020 Biomarker disease BEFREE We conclude that FGFR3 and FGFR4, but not FGFR1 or FGFR2, have prognostic significance in MPM and that FGFR expression is not sufficient to predict FGFR inhibitor response in MPM cell lines. 31527449 2019
Squamous cell carcinoma of esophagus
0.050 AlteredExpression disease BEFREE Therefore, suppressing FGFR2 and enhancing miR-671-5p expression may be the right approaches for ESCC therapy. 31523191 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.040 Biomarker phenotype BEFREE This first-in-human trial was conducted to determine the safety, tolerability, and maximum tolerated dose (MTD) of aprutumab ixadotin in patients with advanced solid tumors from cancer indications known to be FGFR2-positive. 31502117 2019
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2. 31463736 2019