Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks
South African Journal of Science
| Field | Value | |
| Title | Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks | |
| Creator | Cronjé, L. Becker, P.J. Paterson, A.C. Ramsay, M. | |
| Description | 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 from35%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. | |
| Publisher | AOSIS | |
| Date | 2009-12-11 | |
| Identifier | 10.4102/sajs.v105i1/2.5 | |
| Source | South African Journal of Science; Vol 105, No 1/2 (2009); 68 1996-7489 0038-2353 | |
| Language | eng | |
| Relation |
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
https://journals.sajs.aosis.co.za/index.php/sajs/article/view/5/4
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