Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.Y375C
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FGFR2

NM_000141.5:p.Y375C

Associated Papers

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Karaman V et al.

Prenatal Diagnosis, 2026

Recurrent resistance mutations to lirafugratinib inform treatment sequencing in FGFR2-driven tumors.

Facchinetti F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Prevalence and clinicopathological correlation of BRAF V600E mutations in ameloblastoma: A PCR study from a tertiary centre in South India.

Jayamani L et al.

Journal of Stomatology, Oral and Maxillofacial Surgery, 2025

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_3

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

Intrahepatic cholangiocarcinoma with FGFR alterations: A series of Chinese cases with an emphasis on their clinicopathologic and genetic features.

Zhou J et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2024

Understanding and Overcoming Resistance to Selective FGFR Inhibitors across FGFR2-Driven Malignancies.

Facchinetti F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

The Genetics of Chiari 1 Malformation.

Yan RE et al.

Journal of Clinical Medicine, 2024

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Luo C et al.

Molecular Genetics & Genomic Medicine, 2024

FGFR Alterations in Thyroid Carcinoma: A Novel Class of Primary Drivers with Significant Therapeutic Implications and Secondary Molecular Events Potentially Mediating Resistance in Thyroid Malignancy.

Sabbagh MF et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.

Chen S et al.

Cancer Biology & Medicine, 2024

Molecular pathogenesis of ameloblastoma.

Marín-Márquez C et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 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

38602417 (PubMed )
Supplement: crc-24-0137-s07.pdf

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

Discordance in Recommendation Between Next-Generation Sequencing Test Reports and Molecular Tumor Boards in India.

Mathew A et al.

Jco Global Oncology, 2024

Activated FGFR2 signalling as a biomarker for selection of intrahepatic cholangiocarcinoma patients candidate to FGFR targeted therapies.

Brandi G et al.

Scientific Reports, 2024

Histopathological Spectrum and Molecular Characterization of Liver Tumors in the Setting of Fontan-Associated Liver Disease.

Francalanci P et al.

Cancers, 2024

Solid-Basaloid Adenoid Cystic Carcinoma of the Breast: An Aggressive Subtype Enriched for Notch Pathway and Chromatin Modifier Mutations With MYB Overexpression.

Shamir ER et al.

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

RLY-4008, the First Highly Selective FGFR2 Inhibitor with Activity across FGFR2 Alterations and Resistance Mutations.

Subbiah V et al.

Cancer Discovery, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Genomics driven precision oncology in advanced biliary tract cancer improves survival.

Kumar-Sinha C et al.

Neoplasia (new York, N.y.), 2023

Landscape of Genetic Mutations in Appendiceal Cancers.

Constantin M et al.

Cancers, 2023

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

Genomic profiling and precision medicine in complex ameloblastoma.

Gates JC et al.

Head & Neck, 2023

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST7

Charting co-mutation patterns associated with actionable drivers in intrahepatic cholangiocarcinoma.

Kendre G et al.

Journal of Hepatology, 2023

Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies.

Sahoo SS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35798968 (PubMed )
Supplement: 41379_2022_1124_MOESM3_ESM.xlsx › Table_S2

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Ewans LJ et al.

European Journal of Human Genetics : Ejhg, 2022

Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.

Zingg D et al.

Nature, 2022

35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a

Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer.

Burton KA et al.

Jco Precision Oncology, 2022

Proteogenomic characterization identifies clinically relevant subgroups of intrahepatic cholangiocarcinoma.

Dong L et al.

Cancer Cell, 2022

FGFR2 Extracellular Domain In-Frame Deletions Are Therapeutically Targetable Genomic Alterations That Function as Oncogenic Drivers in Cholangiocarcinoma.

Cleary JM et al.

Cancer Discovery, 2021

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

Genomic profiling of solid tumors harboring BRD4-NUT and response to immune checkpoint inhibitors.

Riess JW et al.

Translational Oncology, 2021

34333275 (PubMed )
Supplement: mmc1.xlsx › Sheet2

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

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

33288889 (PubMed )
Supplement: 41431_2020_788_MOESM2_ESM.xlsx › Ark1

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

Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Joshi A et al.

Oncotarget, 2021

33796225 (PubMed )
Supplement: oncotarget-12-578-s003.xlsx › Sequenom

Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.

Zhou Z et al.

Cancer Biology & Medicine, 2021

33710807 (PubMed )
Supplement: cbm-18-490-s001.pdf
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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."