Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S125L
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FGFR1

NM_023110.3:p.S125L

Associated Papers

Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.

Terashima Y et al.

Cancer Science, 2025

40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S3

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.

Ziegler M et al.

Jco Precision Oncology, 2025

FGFR2-fusions define a clinically actionable molecular subset of pancreatic cancer.

Stein L et al.

Npj Precision Oncology, 2024

39289482 (PubMed )
Supplement: 41698_2024_683_MOESM1_ESM.pdf

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.

Yang YF et al.

Asian Journal of Andrology, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.

Nakamura IT et al.

Npj Precision Oncology, 2021

34272467 (PubMed )
Supplement: 41698_2021_204_MOESM3_ESM.xlsx › Supplementary_Data_1

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Fibroblast growth factor receptors in cancer: genetic alterations, diagnostics, therapeutic targets and mechanisms of resistance.

Krook MA et al.

British Journal of Cancer, 2021

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Structural Alterations in Human Fibroblast Growth Factor Receptors in Carcinogenesis.

Mikhaylenko DS et al.

Biochemistry. Biokhimiia, 2018

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Evaluation of BGJ398, a Fibroblast Growth Factor Receptor 1-3 Kinase Inhibitor, in Patients With Advanced Solid Tumors Harboring Genetic Alterations in Fibroblast Growth Factor Receptors: Results of a Global Phase I, Dose-Escalation and Dose-Expansion Study.

Nogova L et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2017

Oncogene mutation profiling reveals poor prognosis associated with FGFR1/3 mutation in liposarcoma.

Li C et al.

Human Pathology, 2016

Mutation profiling in chinese patients with metastatic colorectal cancer and its correlation with clinicopathological features and anti-EGFR treatment response.

Li ZZ et al.

Oncotarget, 2016

Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Ibarrola-Villava M et al.

Oncotarget, 2016

26968814 (PubMed )
Supplement: oncotarget-07-22543-s001.pdf

Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.

Xu N et al.

Oncotarget, 2016

26646697 (PubMed )
Supplement: oncotarget-07-3884-s001.pdf

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

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

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

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

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

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_

Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.

Quintela-Fandino M et al.

Molecular Oncology, 2014

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

The fibroblast growth factor receptor genetic status as a potential predictor of the sensitivity to CH5183284/Debio 1347, a novel selective FGFR inhibitor.

Nakanishi Y et al.

Molecular Cancer Therapeutics, 2014

Hotspot mutations in common oncogenes are infrequent in nasopharyngeal carcinoma.

Jiang N et al.

Oncology Reports, 2014

Genetic mutation screen in early non--small-cell lung cancer (NSCLC) specimens.

Bar J et al.

Clinical Lung Cancer, 2014

Oncogene mutational profile in nasopharyngeal carcinoma.

Zhang ZC et al.

Oncotargets and Therapy, 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

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Common oncogenic mutations are infrequent in oral squamous cell carcinoma of Asian origin.

Zanaruddin SN et al.

Plos One, 2013

24224046 (PubMed )
Supplement: pone.0080229.s001.zip › File_S1 › Table_S3-OncoCarta_Assays.xlsx › Sheet1

Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.

Doss CG et al.

Applied & Translational Genomics, 2012

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Sun D et al.

Translational Oncogenomics, 2012

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_

Modeling genomic diversity and tumor dependency in malignant melanoma.

Lin WM et al.

Cancer Research, 2008

The RTK/RAS/BRAF/PI3K pathways in melanoma: biology, small molecule inhibitors, and potential applications.

Haluska F et al.

Seminars in Oncology, 2007

[Oncogene expression and point mutation in human pancreatic adenocarcinomas].

Li DC et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 1992

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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."