Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma

Title
Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma
Authors
배현진J.H. Song노지헌J.K. Kim정광화은정우사홍건류재천Y.M. AhnS.Y. KimS.H. LeeN.J. YooJ.Y. LeeW.S. Park남석우
Keywords
Eph receptor; EphA3; hepatocellular carcinoma; mutation
Issue Date
2009-08
Publisher
Neoplasma
Citation
VOL 56, NO 4, 331-334
Abstract
EphA3 is a component of the Eph/ephrin tyrosine kinase system, which participates in vasculature development. This receptor/ligand system is associated with various signaling pathways related to cell growth and viability, cytoskeletal organization, cell migration, and anti-apoptosis. Accumulated evidence suggests that aberrant regulation of EphA3 and its genetic alterations are implicated in the development and progression of various cancers. However, despite a high incidence of EphA3 over-expression, no such investigation has been performed in hepatocellular carcinoma. Thus, we investigated genetic alterations of the EphA3 gene in 73 cases of hepatocellular carcinoma by single-strand conformational polymorphism and sequencing. One novel D219V missense mutation was found in the extracellular domain of EphA3, and two genetic alterations in the intracellular sterile-alpha-motif (SAM) domain of EphA3 appeared to be polymorphisms. Although the functional assessments of this mutant are incomplete, it is believed that this novel EphA3 mutation may contribute to the development of hepatocellular carcinoma.
URI
http://pubs.kist.re.kr/handle/201004/35818
ISSN
0028-2685
Appears in Collections:
KIST Publication > Article
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