|
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 |
|
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 |
|
Carcinoma
|
0.060 |
GeneticVariation
|
group |
BEFREE |
Testing for FGFR2 amplification might be warranted when searching for actionable genomic alterations in sebaceous carcinomas in the mediastinum and in other locations.
|
31401665 |
2020 |
|
Squamous cell carcinoma of skin
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Differential expression of alternatively spliced FGFR2, Rho guanosine triphosphatase signaling, and RNA metabolism proteins were associated with the level of cSCC tumor differentiation.
|
31254517 |
2020 |
|
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 |
|
Pfeiffer Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
|
29915381 |
2019 |
|
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chemotherapy and radiotherapy do not increase levels of spontaneous FGFR2 mutations in sperm but, unexpectedly, highly-sterilizing treatments dramatically reduce the levels of the disease-associated c.755C > G (Apert syndrome) mutation in sperm.
|
31348830 |
2019 |
|
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 |
|
Craniofacial dysostosis type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
31318164 |
2019 |
|
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 |
|
Lacrimoauriculodentodigital syndrome
|
0.730 |
Biomarker
|
disease |
BEFREE |
Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome.
|
30253032 |
2019 |
|
BENT BONE DYSPLASIA SYNDROME
|
0.730 |
Biomarker
|
disease |
BEFREE |
Our results indicate that the bent long bones in BBDS arise from disruptions in musculoskeletal integration and that increased nuclear and nucleolar localization of FGFR2 plays a mechanistic role in the disease phenotype.248:233-246, 2019.
|
30620790 |
2019 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Significant association with BC was confirmed in 2 SNPs: rs2981582 FGFR2 and rs889312 MAP3K1, and the odds ratios of homozygotes with two risk alleles in both SNP's were higher than in heterozygotes with one mutant allele, as follows: FGFR2 TT: 1.953 (95%CI 1.014-3.834, p = 0.049), CT 1.771 (95%CI 1.088-2.899, p = 0.026) and MAP3K1 CC 2.894 (95%CI 1.028-9.566, p = 0.048), AC 1.760 (95%CI 1.108-2.813, p = 0.019).
|
31002855 |
2019 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that NEF possessed the anti-growth and anti-metastasis effect on MDA-MB-231 cells through regulating miR-374a/FGFR-2, which might provide new insight for breast cancer management.
|
31207222 |
2019 |
|
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 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
In addition, we illustrate how breast cancer pathway analysis can be confounded by the frequency of FGFR2 in pathway lists.
|
30875371 |
2019 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study we used FGFR1 and FGFR2 gene amplifications containing human MFM223 breast cancer cells in an experimental xenograft model of breast cancer bone growth using intratibial inoculation technique.
|
30956945 |
2019 |
|
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
31318164 |
2019 |
|
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 |
|
Craniofacial Dysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2.
|
31463736 |
2019 |
|
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism.
|
30589795 |
2019 |
|
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 |