Hereditary non-polyposis colorectal cancer is predicted to contribute towards colorectal cancer in young South African blacks
| Autor: | L. Cronjé, P.J. Becker, A.C. Paterson, M. Ramsay |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: | |
| Zdroj: | South African Journal of Science, Vol 105, Iss 1/2 (2009) |
| Druh dokumentu: | article |
| ISSN: | 0038-2353 1996-7489 |
| DOI: | 10.4102/sajs.v105i1/2.5 |
| 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 |
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