| Autor: |
L. Cronjé, P.J. Becker, A.C. Paterson, M. Ramsay |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
South African Journal of Science, Vol 105, Iss 1/2 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
1996-7489 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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