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

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

Abstract 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, asso...

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Main Authors: D. A. Casolari, T. Nguyen, C. M. Butcher, D. G. Iarossi, C. N. Hahn, S. C. Bray, P. Neufing, W. T. Parker, J. Feng, K. Z. Y. Maung, A. Wee, L. Vidovic, C. H. Kok, P. G. Bardy, S. Branford, I. D. Lewis, S. W. Lane, H. S. Scott, D. M. Ross, R. J. D’Andrea
Format: article
Language:EN
Published: Nature Portfolio 2017
Subjects:
Medicine
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Science
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Online Access:https://doaj.org/article/b3f3e98ac3f74378a5acf9fa8bc21d11
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https://doaj.org/article/b3f3e98ac3f74378a5acf9fa8bc21d11

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