Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.F53L
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MAP2K1

NM_002755.4:p.F53L

Associated Papers

Histiocytic Sarcoma Arising From Pediatric Rosai Dorfman Disease: Two Novel Cases and Literature Review.

Sirotnikov S et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2026

Mutational Signatures and Clonal Hematopoiesis in Intestinal Metaplasia across Countries with Varying Stomach Cancer Incidence.

Huang KK et al.

Cancer Discovery, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction.

Hida T et al.

Pigment Cell & Melanoma Research, 2025

Retrospective nationwide survey of pediatric RDD in Japan: a high prevalence of mutations in the kinase pathway genes.

Asano T et al.

International Journal of Hematology, 2025

Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.

Lang M et al.

Ejhaem, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases.

Park SS et al.

Annals of Laboratory Medicine, 2025

40017228 (PubMed )
Supplement: alm-45-3-279-supple2.xlsx › Table_S3

RAS Pathway Mutations and Therapeutics in Vascular Anomalies.

Alharbi S et al.

Pediatric Blood & Cancer, 2025

Effects of F53 hotspot mutations on the molecular dynamics of MEK1 protein and the binding of its FDA-approved inhibitors.

Vural BE et al.

International Journal of Biological Macromolecules, 2025

Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.

Ebbelaar CF et al.

Ebiomedicine, 2025

40107205 (PubMed )
Supplement: mmc1.docx

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Somatic mosaicism in genetic errors of immunity.

Cooper MA

The Journal of Allergy and Clinical Immunology, 2025

Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.

Pai P et al.

Molecular Biotechnology, 2025

Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.

Ku WC et al.

Clinical Proteomics, 2025

39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Di Majo BE et al.

Frontiers in Immunology, 2025

40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1

Rosai-Dorfman-Destombes disease in adults: a single center experience.

Leung E et al.

Annals of Hematology, 2024

Base editing screens define the genetic landscape of cancer drug resistance mechanisms.

Coelho MA et al.

Nature Genetics, 2024

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.

Hida T et al.

Cancer Medicine, 2024

Mutation analysis in individual circulating tumor cells depicts intratumor heterogeneity in melanoma.

Sementsov M et al.

Embo Molecular Medicine, 2024

Evolutionary analysis reveals the role of a non-catalytic domain of peptidyl arginine deiminase 2 in transcriptional regulation.

Villanueva-Cañas JL et al.

Iscience, 2024

Demographics and additional haematologic cancers of patients with histiocytic/dendritic cell neoplasms.

Kemps PG et al.

Histopathology, 2024

Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.

Ma H et al.

Experimental Cell Research, 2024

Clinical, Morphological and Molecular Features of Spitz tumors.

Donati M et al.

Ceskoslovenska Patologie, 2024

Successful treatment of MAP2K1 mutant stage IV-M1d melanoma with trametinib plus low-dose dabrafenib: a case report.

Dirven I et al.

Frontiers in Medicine, 2024

Clinical, Morphologic, and Molecular Features of Benign and Intermediate-grade Melanocytic Tumors With Activating Mutations in MAP2K1.

Fumero-Velázquez M et al.

The American Journal of Surgical Pathology, 2023

MEK inhibitors in cancer treatment: structural insights, regulation, recent advances and future perspectives.

Ram T et al.

Rsc Medicinal Chemistry, 2023

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

Andrianova EP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Clinical and exploratory biomarker findings from the MODUL trial (Cohorts 1, 3 and 4) of biomarker-driven maintenance therapy for metastatic colorectal cancer.

Ducreux M et al.

European Journal of Cancer (oxford, England : 1990), 2023

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Discovery of a Novel ATP-Competitive MEK Inhibitor DS03090629 that Overcomes Resistance Conferred by BRAF Overexpression in BRAF-Mutated Melanoma.

Takano K et al.

Molecular Cancer Therapeutics, 2023

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.

Zakharova V et al.

Human Mutation, 2022

RAF-MEK-ERK pathway in cancer evolution and treatment.

Ullah R et al.

Seminars in Cancer Biology, 2022

A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile.

Salmeron-Villalobos J et al.

Blood Advances, 2022

35609565 (PubMed )
Supplement: advancesADV2022007322-suppl1.pdf

Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer.

Kubota Y et al.

Nature Communications, 2022

Clinical Impact of Immune Checkpoint Inhibitor (ICI) Response, DNA Damage Repair (DDR) Gene Mutations and Immune-Cell Infiltration in Metastatic Melanoma Subtypes.

Andrieu C et al.

Medical Sciences (basel, Switzerland), 2022

35736346 (PubMed )
Supplement: medsci-10-00026-s001.zip › medsci-1650480-supplementary.pdf

Near Complete Response to Trametinib Treatment in Histiocytic Sarcoma Harboring a Somatic KRAS Mutation.

Hu B et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2022

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Hieggelke L et al.

Cancers, 2021

34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.pdf

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Molecular and Pathological Profiling of Corresponding Treatment-Naïve and Neoadjuvant Pazopanib-Treated High-Risk Soft Tissue Sarcoma Samples of the GISG-04/NOPASS Study.

Gaiser T et al.

Biology, 2021

The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy.

Egan C et al.

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

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.

Williams EA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

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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."