Associated Papers
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.
Chen S et al.
Cancer Biology & Medicine, 2024
A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.
Garmezy B et al.
Cancer Research Communications, 2024
The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma.
Spahn S et al.
Nature Communications, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Proteogenomic characterization identifies clinically relevant subgroups of intrahepatic cholangiocarcinoma.
Dong L et al.
Cancer Cell, 2022
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
Theiler M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Selective FGFR/FGF pathway inhibitors: inhibition strategies, clinical activities, resistance mutations, and future directions.
Repetto M et al.
Expert Review of Clinical Pharmacology, 2021
Targeting extracellular and juxtamembrane FGFR2 mutations in chemotherapy-refractory cholangiocarcinoma.
Bitzer M et al.
Npj Precision Oncology, 2021
Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.
Fujii Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.
Ferreira LC et al.
Frontiers in Genetics, 2020
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.
LeBlanc S et al.
Molecular Syndromology, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 2018
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.
Jauhri M et al.
Medical Oncology (northwood, London, England), 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
Ron N et al.
The American Journal of Case Reports, 2016
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M et al.
American Journal of Medical Genetics. Part A, 2016
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 2015
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
Evolutionary-guided de novo structure prediction of self-associated transmembrane helical proteins with near-atomic accuracy.
Wang Y et al.
Nature Communications, 2015
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2015
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Tone AA et al.
Bmc Cancer, 2014
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
MacConaill LE et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Single gene disorders with craniofacial and oral manifestations.
Patil S et al.
The Journal of Contemporary Dental Practice, 2014
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Kim S et al.
Plos One, 2014
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
C GP et al.
Applied Biochemistry and Biotechnology, 2013
Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.
Wilkinson CC et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
Wang Y et al.
The Journal of Clinical Investigation, 2012
FGFR2 point mutations in 466 endometrioid endometrial tumors: relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations and clinicopathological features.
Byron SA et al.
Plos One, 2012
Targeting mutant fibroblast growth factor receptors in cancer.
Greulich H et al.
Trends in Molecular Medicine, 2011
Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
Barge-Schaapveld DQ et al.
Pediatric Neurology, 2011
Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.
Deshpande V et al.
Bmc Cancer, 2011