Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific reports - 26 May 2017

Casolari D A, Nguyen T, Butcher C M, Iarossi D G, Hahn C N, Bray S C, Neufing P, Parker W T, Feng J, Maung K Z Y, Wee A, Vidovic L, Kok C H, Bardy P G, Branford S, Lewis I D, Lane S W, Scott H S, Ross D M, D'Andrea R J

Abstract excerpt

We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2V617F Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated with increased transforming potential. Aberrant signalling from the EGFRC329R receptor is cell type-dependent and in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Clone Cells
Share to Erythroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythropoietin

Share to Janus Kinase 2

Share to Leukemia, Erythroblastic, Acute

Share to Polycythemia Vera

Share to Primary Myelofibrosis

Share to Protein Multimerization

Source

Open in PubMed Open full text

Identifiers

PMID: 28550306
DOI: 10.1038/s41598-017-02655-7
PMCID: PMC5446393

Genes

EGFR
EPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.PMID 28550306Read ↗

An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.Semantic proximity Read ↗

A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosisSemantic proximity Read ↗

ERBB2/HER2 mutations are transforming and therapeutically targetable in leukemia.Semantic proximity Read ↗

Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation.Semantic proximity Read ↗

Novel PDGFRA mutation in blastic plasmacytoid dendritic cell neoplasm; possible therapeutic implications.Semantic proximity Read ↗

Oncogenic mutant forms of EGFR: lessons in signal transduction and targets for cancer therapy.Semantic proximity Read ↗

Ligand-independent oncogenic signaling by the epidermal growth factor receptor: v-ErbB as a paradigm.Semantic proximity Read ↗

Mutational activation of ErbB family receptor tyrosine kinases: insights into mechanisms of signal transduction and tumorigenesis.Semantic proximity Read ↗

Tissue-specific transformation by oncogenic mutants of epidermal growth factor receptor.Semantic proximity Read ↗

Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma.Semantic proximity Read ↗

Cell transformation by the epidermal growth factor receptor and v-erbB.Semantic proximity Read ↗

Kinetic analysis of epidermal growth factor receptor somatic mutant proteins shows increased sensitivity to the epidermal growth factor receptor tyrosine kinase inhibitor, erlotinib.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.