Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks
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1 février 2009
- handle: 10670/1.38vkpr
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Colorectal cancer Rectal cancer Colon cancer Colorectal cancerCiter ce document
L. Cronjé et al., « Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks », South African Journal of Science, ID : 10670/1.38vkpr
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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 from 35% of 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.