Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.C121S
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MAP2K1

NM_002755.4:p.C121S

Associated Papers

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

Diamond EL et al.

Cancer Cell, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Genetic Drivers of Sensitivity or Resistance to RAS(ON) Multi-Selective Inhibitors in NRAS-Mutated Melanoma.

Foth M et al.

Biorxiv : the Preprint Server for Biology, 2025

Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB).

Gokhale RH et al.

Personalized Medicine, 2025

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Exploring the Genetic Landscape of Primary Marginal Zone Lymphoma of the Urinary Bladder.

Balestri I et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Pathogenic mechanism of extracranial arteriovenous malformations: insights from clinical, pathological, and genetic analyses.

Hirose K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.

Lang M et al.

Ejhaem, 2025

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

El Sissy FN et al.

Molecular Diagnosis & Therapy, 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

Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.

Sharma S et al.

Jco Global Oncology, 2025

40324118 (PubMed )
Supplement: DS1_GO-24-00587.pdf

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

Ebbelaar CF et al.

Ebiomedicine, 2025

The somatic mutation landscape of normal gastric epithelium.

Coorens THH et al.

Nature, 2025

40108450 (PubMed )
Supplement: 41586_2025_8708_MOESM1_ESM.xlsx › Supplementary_Table_6_-_Drivers

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

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

Pai P et al.

Molecular Biotechnology, 2025

BRAF Deletion in Adult Patients with Langerhans Cell Histiocytosis Correlates with Multisystem Disease and Poor Outcomes.

Lang M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

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

Leung E et al.

Annals of Hematology, 2024

Pediatric-type follicular lymphoma and pediatric nodal marginal zone lymphoma: additional evidence to support they are a single disease with variation in the histologic spectrum.

Li HG et al.

Virchows Archiv : an International Journal of Pathology, 2024

Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.

Ito Y et al.

Cancer Research, 2024

Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy.

Friedman JS et al.

British Journal of Haematology, 2024

A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.

Tan L et al.

Nature Communications, 2024

38418463 (PubMed )
Supplement: 41467_2024_46008_MOESM5_ESM.xlsx › Sheet1

Development, testing and validation of a targeted NGS-panel for the detection of actionable mutations in lung cancer (NSCLC) using anchored multiplex PCR technology in a multicentric setting.

Kumbrink J et al.

Pathology Oncology Research : Por, 2024

38605929 (PubMed )
Supplement: Table1.XLSX › Sup_Table_1_Comparison_details

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

Activating mutations drive human MEK1 kinase using a gear-shifting mechanism.

Patil K et al.

The Biochemical Journal, 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

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

37579140 (PubMed )
Supplement: pnas.2304184120.sapp.pdf

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Molecular and clinicopathologic characterization of pediatric histiocytoses.

Hélias-Rodzewicz Z et al.

American Journal of Hematology, 2023

Tracking and blocking interdependencies of cellular BRAF-MEK oncokinase activities.

Fleischmann J et al.

Pnas Nexus, 2023

Caspase 3-specific cleavage of MEK1 suppresses ERK signaling and sensitizes cells to stress-induced apoptosis.

Moriizumi H et al.

Febs Open Bio, 2023

Rare molecular subtypes of lung cancer.

Harada G et al.

Nature Reviews. Clinical Oncology, 2023

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

Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.

Kemps PG et al.

Blood Advances, 2023

Response and Resistance to Trametinib in MAP2K1-Mutant Triple-Negative Melanoma.

Krebs FS et al.

International Journal of Molecular Sciences, 2023

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

Genetic Layout of Melanoma Lesions Is Associated with BRAF/MEK-Targeted Therapy Resistance and Transcriptional Profiles.

Vergani E et al.

The Journal of Investigative Dermatology, 2022

BRAF Inhibitor Resistance in Melanoma: Mechanisms and Alternative Therapeutic Strategies.

Zhong J et al.

Current Treatment Options in Oncology, 2022

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

Ullah R et al.

Seminars in Cancer Biology, 2022

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.

Han X et al.

Molecular Genetics & Genomic Medicine, 2022

Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.

Yang Y et al.

Journal of Cancer Research and Clinical Oncology, 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
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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."