Hereditary Non-Polyposis Colorectal Cancer is Predicted to Contribute towards Colorectal Cancer in Young South African Blacks
S. Afr. j. sci. (Online)
; 105(1-2): 68-72, 2010.
Artigo
em Inglês
| AIM
| ID: biblio-1270887
Biblioteca responsável:
CG1.1
ABSTRACT
A disproportionately large number of young (50 years); those from young black patients presented more often with a low methylation phenotype (CIMP-L) and high levels of microsatellite instability (MSI-H). Furthermore; as determined by real-time PCR using probe technology; the tissues from35of young blacks showed mutations within exon 1 of the KRAS gene. The BRAF-V600E mutation was only evident in the case of a single young black patient. Based on these results it seems likely that a proportion of CRC cases in young black patients from South Africa develop through the accumulation of mutations resulting in a mismatch repair deficiency linked to MSI-H and; possibly; germline mutations in the mismatch repair genes. The features in these patients are consistent with a diagnosis of the Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome. This finding has important implications for patient management and suggests that family members may be at high risk for CRC
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Índice:
AIM (África)
Assunto principal:
Neoplasias Colorretais
/
População Negra
/
Adulto Jovem
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Idioma:
Inglês
Revista:
S. Afr. j. sci. (Online)
Ano de publicação:
2010
Tipo de documento:
Artigo
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