Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma.
Neoplasma
; 56(4): 331-4, 2009.
Article
em En
| MEDLINE
| ID: mdl-19469653
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.
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Base de dados:
MEDLINE
Assunto principal:
Receptores Proteína Tirosina Quinases
/
Carcinoma Hepatocelular
/
Mutação de Sentido Incorreto
/
Neoplasias Hepáticas
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neoplasma
Ano de publicação:
2009
Tipo de documento:
Article