ß-Catenin accumulation and S33F mutation of CTNNB1 gene in colorectal cancer in Saudi Arabia.
Pol J Pathol
; 67(2): 156-62, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-27543871
ABSTRACT
Several risk factors associated with colorectal cancer (CRC) have been identified including ß-catenin/CTNNB1 hotspot mutations. The levels of ß-catenin within a cell are regulated via phosphorylation of the N terminus of ß-catenin by GSK-3ß. Thus far three serines (S33, 37, 45) and one threonine (T41) are considered to be the substrates for GSK-3ß phosphorylation. In the present investigation an attempt was made to study the role of ß-catenin mutations in exon-3 in 60 colorectal cancer patients from Kingdom of Saudi Arabia (KSA). The hot spot mutation region of ß-catenin exon 3 was evaluated in matched tumor and normal tissues using PCR and direct sequencing. Sequencing of exon 3 of the CTNNB1 gene revealed an activating mutation (S33F) in one of the tumor samples as compared to the normal tissue from the same patient where there was no such mutation found. Immunohistochemical staining showed the accumulation of ß-catenin protein both in cytoplasm and in the nuclei of cancer cells as compared to normal tissue.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Colorretais
/
Beta Catenina
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Pol J Pathol
Assunto da revista:
PATOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article