Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.K57E
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MAP2K1

NM_002755.4:p.K57E

Associated Papers

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

CDK4 inhibition reduces proliferation and mineralization in MAP2K1+ melorheostosis: opening a pathway to treatment.

Maity J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Genomic Evaluation of Canine Prostatic Carcinomas as a Model for the Human Disease: or 'UC or not UC - that is the question'.

Thomas R et al.

Veterinary and Comparative Oncology, 2025

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_S5

Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.

Lang M et al.

Ejhaem, 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

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.

Bhattacharyya T

Jbmr Plus, 2025

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

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

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

Coelho MA et al.

Nature Genetics, 2024

Impact of protein and small molecule interactions on kinase conformations.

Kugler V et al.

Elife, 2024

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_A

MAP2K1-mutated melanocytic tumors have reproducible histopathologic features and share similarities with melanocytic tumors with BRAF V600E mutations.

Alomari AK et al.

Journal of Cutaneous Pathology, 2023

VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.

Allbritton-King JD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM3_ESM.xlsx › Feuil1

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

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

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

Driver and targetable alterations in Chinese patients with small bowel carcinoma.

Li J et al.

Journal of Cancer Research and Clinical Oncology, 2023

Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.

Napolitano S et al.

Jama Oncology, 2023

37200022 (PubMed )
Supplement: jamaoncol-e230655-s003.xlsx › eTable4

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

Fleischmann J et al.

Pnas Nexus, 2023

Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption.

Thomas R et al.

Plos Genetics, 2023

High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.

Mizuno S et al.

Molecular Cancer Therapeutics, 2023

Multigene panel next generation sequencing in metastatic colorectal cancer in an Australian population.

Nindra U et al.

Plos One, 2023

37796807 (PubMed )
Supplement: pone.0292087.s001.xlsx › Sheet1

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.

Carli D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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

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

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant.

Chihara D et al.

Blood Advances, 2021

Calibration-free NGS quantitation of mutations below 0.01% VAF.

Dai P et al.

Nature Communications, 2021

34675197 (PubMed )
Supplement: 41467_2021_26308_MOESM1_ESM.pdf

Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Thirunavukarasu D et al.

Genome Biology, 2021

34482832 (PubMed )
Supplement: 13059_2021_2449_MOESM1_ESM.pdf

Acquired Resistance to BRAF/MEK Inhibitor Therapy in BRAF-V600-mutated Squamous Cell Lung Cancer: Concurrent Evolvement of PTEN and MEK1 Mutations.

Metzenmacher M et al.

Clinical Lung Cancer, 2021

Expanding spectrum of "spitzoid" lesions: a small series of 4 cases with MAP2K1 mutations.

Kerckhoffs KGP et al.

Virchows Archiv : an International Journal of Pathology, 2021

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.

Lee SE et al.

International Journal of Molecular Sciences, 2021

34074070 (PubMed )
Supplement: ijms-22-05561-s001.zip › ijms-1205781-supplementary.xlsx › Table_S1

Mutation-oriented profiling of autoinhibitory kinase conformations predicts RAF inhibitor efficacies.

Mayrhofer JE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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

Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Elliott E et al.

Cancer Reports (hoboken, N.j.), 2020

32881420 (PubMed )
Supplement: CNR2-3-e1287-s001.pdf

Leveraging Systematic Functional Analysis to Benchmark an In Silico Framework Distinguishes Driver from Passenger MEK Mutants in Cancer.

Hanrahan AJ et al.

Cancer Research, 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."