Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R124R
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FGFR3

NM_000142.5:p.R124R

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

FGFR1/3 Signaling as an Achilles' Heel of Phenotypic Diversity in Urothelial Carcinoma.

Pichler R et al.

European Urology Oncology, 2025

Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.

Hoskins EL et al.

Npj Precision Oncology, 2025

40610725 (PubMed )
Supplement: 41698_2025_889_MOESM5_ESM.xlsx › Sheet1

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

Integrative analysis of patient-derived tumoroids and ex vivo organoid modelling of ARID1A loss in bladder cancer reveals therapeutic molecular targets.

Scholtes MP et al.

Cancer Letters, 2025

FGFR3 gene mutations screening in non-muscle invasive bladder cancer (NMIBC) in the Tunisian population.

Saidani B et al.

Molecular Biology Reports, 2025

AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer.

Bannier PA et al.

Nature Communications, 2024

Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors.

Xu C et al.

Global Medical Genetics, 2024

Transcriptomic Profiling of Upper Tract Urothelial Carcinoma: Bladder Cancer Consensus Classification Relevance, Molecular Heterogeneity, and Differential Immune Signatures.

Fontugne J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Somatic mutations in facial skin from countries of contrasting skin cancer risk.

King C et al.

Nature Genetics, 2023

Significance of the FGFR3 mutation in Chinese patients with bladder cancer.

Hao L et al.

Translational Andrology and Urology, 2023

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Warrick JI et al.

Scientific Reports, 2022

36192513 (PubMed )
Supplement: 41598_2022_20927_MOESM14_ESM.xlsx › mutations

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.

Ibrahim NK et al.

Cancers, 2022

35205727 (PubMed )
Supplement: cancers-14-00969-s001.zip › cancers-1533743-Supplementary_Tables.xlsx › Table_S6

Recurrent urothelial carcinoma-like FGFR3 genomic alterations in malignant Brenner tumors of the ovary.

Lin DI et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Phase II Study of AZD4547 in Patients With Tumors Harboring Aberrations in the FGFR Pathway: Results From the NCI-MATCH Trial (EAY131) Subprotocol W.

Chae YK et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients - Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC).

Roperch JP et al.

Bmc Medical Genetics, 2020

Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma.

Sjödahl G et al.

International Journal of Cancer, 2020

31609466 (PubMed )
Supplement: IJC-146-2636-s006.xlsx › Table_S1

Pure Large Nested Variant of Urothelial Carcinoma (LNUC) Is the Prototype of an FGFR3 Mutated Aggressive Urothelial Carcinoma with Luminal-Papillary Phenotype.

Weyerer V et al.

Cancers, 2020

The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Adashek JJ et al.

Genome Medicine, 2020

Biological significance of TERT promoter mutation in papillary urothelial neoplasm of low malignant potential.

Wang CC et al.

Histopathology, 2018

Expression levels of FGFR3 as a prognostic marker for the progression of primary pT1 bladder cancer and its association with mutation status.

Kang HW et al.

Oncology Letters, 2017

Oncogenic Characterization and Pharmacologic Sensitivity of Activating Fibroblast Growth Factor Receptor (FGFR) Genetic Alterations to the Selective FGFR Inhibitor Erdafitinib.

Karkera JD et al.

Molecular Cancer Therapeutics, 2017

A Phase II Trial of Dovitinib in BCG-Unresponsive Urothelial Carcinoma with FGFR3 Mutations or Overexpression: Hoosier Cancer Research Network Trial HCRN 12-157.

Hahn NM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Spectrum of genomic alterations in FGFR3: current appraisal of the potential role of FGFR3 in advanced urothelial carcinoma.

Sethakorn N et al.

Bju International, 2016

Detection of multiple mutations in urinary exfoliated cells from male bladder cancer patients at diagnosis and during follow-up.

Critelli R et al.

Oncotarget, 2016

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer.

Roperch JP et al.

Bmc Cancer, 2016

Tumor heterogeneity of fibroblast growth factor receptor 3 (FGFR3) mutations in invasive bladder cancer: implications for perioperative anti-FGFR3 treatment.

Pouessel D et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients.

Yuan X et al.

Oncotarget, 2016

Oncogenic Activation of Fibroblast Growth Factor Receptor-3 and RAS Genes as Non-Overlapping Mutual Exclusive Events in Urinary Bladder Cancer.

Pandith AA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

The Diagnostic and Prognostic Performance of Urinary FGFR3 Mutation Analysis in Bladder Cancer Surveillance: A Prospective Multicenter Study.

Couffignal C et al.

Urology, 2015

Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.

Hosen I et al.

International Journal of Cancer, 2015

Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors.

Dueñas M et al.

Molecular Carcinogenesis, 2015

TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomarkers in Han Chinese patients with urothelial bladder cancer.

Wang K et al.

The Oncologist, 2015

Mutation-introduced dimerization of receptor tyrosine kinases: from protein structure aberrations to carcinogenesis.

Hu H et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

[PENS (papular epidermal nevus with "skyline" basal cell layer)].

Pernet C et al.

Annales De Dermatologie Et De Venereologie, 2015

Increased angiogenesis and FGFR protein expression indicate a favourable prognosis in bladder cancer.

Bertz S et al.

Virchows Archiv : an International Journal of Pathology, 2014

Phase 2 trial of dovitinib in patients with progressive FGFR3-mutated or FGFR3 wild-type advanced urothelial carcinoma.

Milowsky MI et al.

European Journal of Cancer (oxford, England : 1990), 2014

PI3K/AKT pathway activation in bladder carcinogenesis.

Calderaro J et al.

International Journal of Cancer, 2014

Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Taylor CF et al.

Human Molecular Genetics, 2014

24270882 (PubMed )
Supplement: supp_ddt589_ddt589supp_table1.pdf

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Mustafa M et al.

Case Reports in Endocrinology, 2014

Fibroblast growth factor receptors, developmental corruption and malignant disease.

Kelleher FC et al.

Carcinogenesis, 2013

Fibroblast growth factor receptor 3 is a rational therapeutic target in bladder cancer.

Gust KM et al.

Molecular Cancer Therapeutics, 2013

Oncogenic role of fibroblast growth factor receptor 3 in tumorigenesis of urinary bladder cancer.

Pandith AA et al.

Urologic Oncology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."