Somatic mutations of calreticulin in myeloproliferative neoplasms

• Published in: International journal of hematology Vol. 105; no. 6; pp. 743 - 747
• Main Authors: Imai, Misa, Araki, Marito, Komatsu, Norio
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.06.2017; Springer Nature B.V
• Subjects: Calreticulin - genetics; Calreticulin - metabolism; Deletion; Endoplasmic reticulum; Exons; Frameshift Mutation; Hematologic Neoplasms - genetics; Hematologic Neoplasms - metabolism; Hematology; Humans; Medicine; Medicine & Public Health; Mutation; Myeloproliferative Disorders - genetics; Myeloproliferative Disorders - metabolism; Neoplasm Proteins - genetics; Neoplasm Proteins - metabolism; Neoplasms; Oncology; Pathogenesis; Progress in Hematology; Protein Domains; Tumors; MPL; Calreticulin; Thrombopoietin receptor; Autocrine; Chaperone; Myeloproliferative neoplasms

Recurrent somatic mutations in calreticulin ( CALR ) gene that encodes a molecular chaperone residing in the endoplasmic reticulum were identified in 2013 in a subset of patients with myeloproliferative neoplasms (MPNs). All of these mutations found in patients were either small insertion or deletio...