Molecular profile of the Lynch Syndrome in the Republic of Macedonia
| Autor: | Marija Hiljadnikova-Bajro, Toni Josifovski, Milco Panovski, Aleksandar J. Dimovski |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Makedonsko Farmacevtski Bilten, Vol 58, Iss (1, 2), Pp 15-24 (2012) |
| Druh dokumentu: | article |
| ISSN: | 1409-8695 1857-8969 |
| Popis: | The most frequent type of hereditary colorectal cancer, the one occurring in the setting of the Lynch syndrome (LS) is considered a phenotypic manifestation of a germline defect in the mismatch repair mechanism i.e. in the MLH1, MSH2, MSH6 or PMS2 gene. Aiming towards establishment of a standardized protocol involving molecular analyses for diagnosis of this syndrome and developing a unique national register of families with hereditary colorectal cancer syndromes in the Republic of Macedonia, we began a prospective study to reveal the genetic defects among Macedonian patients with colorectal cancer (CRC) and identifying families with hereditary CRC. A total of 53 patients fulfilling the revised Bethesda criteria for MSI-genetic testing were compared to 350 patients with sporadic CRC. The results reveal significant differences in age at diagnosis (p=0.03), involvement of microsatellite instability (pG nonsense mutation with a possible founder effect in the Macedonian population, the MLH1 ex.3-12 deletion, as well as the c.244A>G mutation, IVS14- 19A>G and IVS4+65A>C changes in MLH1 without confirmed pathological significance. The observed high frequency (87.5%) of the Ile219Val (c.655A>G) variant in MLH1 among the LS suspects prompts further analyses to evaluate its involvement in the development of hereditary CRC by itself or as a risk modifying factor among the patients from the Republic of Macedonia. |
| Databáze: | Directory of Open Access Journals |
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