|
Sebaceous Adenocarcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Potentially actionable FGFR2 high-level amplification in thymic sebaceous carcinoma.
|
31401665 |
2020 |
|
Congenital anomaly of face
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Several genes, such as EMX2 and FGFR2, were identified as the cause genital anomalies and facial dysmorphism in 10q26 deletion syndrome.
|
30711679 |
2020 |
|
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 |
|
Mesonephroma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Herein, we report a case of well-differentiated mesonephric adenocarcinoma with an FGFR2 mutation not previously reported in the literature.
|
31335448 |
2019 |
|
Mesothelioma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Notably, FGFR2 was found to be highly expressed in NF2-negative human mesothelioma tissues (11/12 cases, 91.7%) but less expressed in NF2-positive tissues.
|
30417500 |
2019 |
|
Monosomy
|
0.010 |
GeneticVariation
|
group |
BEFREE |
All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species.
|
31068123 |
2019 |
|
orbit (eye disorders)
|
0.010 |
Biomarker
|
group |
BEFREE |
The Crouzon-Pfeiffer syndrome FGFR2 orbit exhibits early growth acceleration followed by premature growth arrest at 10 to 14 years.
|
30589795 |
2019 |
|
Retinoblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In addition, the disruption of FGFR2 in the NF2-KO cell clone suppressed cell proliferation as well as the phosphorylation levels of JNK, c-Jun, and Rb.
|
30417500 |
2019 |
|
B-Cell Lymphomas
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The silencing of FGFR2 was demonstrated to augment the effects of cisplatin treatment, including decreasing the cell viability and inducing cell cycle arrest, which involved the increase and decrease of the durations of G1 and S phases, respectively, and a decrease in the expression levels of cyclin D1 and CDC25A, and increasing the rate of apoptosis via the intrinsic apoptosis pathway, as demonstrated by the upregulation of cleaved caspase‑3 and B‑cell lymphoma 2 (Bcl‑2)‑associated X protein and downregulation of Bcl‑2, in SUNE1 and C666‑1 cell lines.
|
31115494 |
2019 |
|
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 |
|
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 |
|
Malignant neoplasm of cardioesophageal junction of stomach
|
0.010 |
Biomarker
|
disease |
BEFREE |
Bemarituzumab with modified FOLFOX6 for advanced FGFR2-positive gastroesophageal cancer: FIGHT Phase III study design.
|
31094225 |
2019 |
|
Scirrhous gastric carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
OCUM-14 might be useful for elucidating the characteristic mechanisms of SGC and clarifying the effect of FGFR2 inhibitors on SGC.
|
30652228 |
2019 |
|
Metastatic Prostate Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A targeted RNA-sequencing assay identified a KLK2-FGFR2 fusion gene in two patients with metastatic prostate cancer.
|
31043681 |
2019 |
|
Gastrooesophageal cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
Bemarituzumab with modified FOLFOX6 for advanced FGFR2-positive gastroesophageal cancer: FIGHT Phase III study design.
|
31094225 |
2019 |
|
Soft tissue chondroma
|
0.010 |
Biomarker
|
disease |
BEFREE |
RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2.
|
31273315 |
2019 |
|
Metastasis from malignant tumor of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
A targeted RNA-sequencing assay identified a KLK2-FGFR2 fusion gene in two patients with metastatic prostate cancer.
|
31043681 |
2019 |
|
Solid/Multicystic Ameloblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM.
|
30216733 |
2019 |
|
Cervical Mesonephric Adenocarcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cervical Mesonephric Adenocarcinoma With Novel FGFR2 Mutation.
|
31335448 |
2019 |
|
Cholangiolocellular Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The genomic profile (IDH1/2 mutations, FGFR2 fusions, chromatin-remodeling gene mutations such as ARID1A, PBRM1) and copy number alterations were similar in cholangiolocellular carcinoma, intrahepatic cholangiocarcinoma and mixed cholangiolocellular-intrahepatic cholangiocarcinoma.
|
31186529 |
2019 |
|
Bowing of the long bones
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Bent bone dysplasia syndrome (BBDS), a congenital skeletal disorder caused by dominant mutations in fibroblast growth factor receptor 2 (FGFR2), is characterized by bowed long bones within the limbs.
|
30620790 |
2019 |
|
Morphological abnormality of the middle ear
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Although the middle ear malformations in multiple FGFR2 gain-of-function disorders are clinically characterized, those in the FGFR2 loss-of-function disorder lacrimo-auriculo-dento-digital (LADD) syndrome are relatively undescribed.
|
30253032 |
2019 |
|
Congenital Microtia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The rs3135718-G gene in FGFR2 has a certain association with the incidence of congenital microtia with high prevalence and risk.
|
31258676 |
2019 |
|
Perihilar Cholangiocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
SPRY4 expression can be induced by ectopic FGFR2 activation in PHCC.
|
31761616 |
2019 |
|
Autistic Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.
|
30059965 |
2018 |