Frecuencia y perfil mutacional de genes implicados en el desarrollo de Síndrome de Lynch
Colorectal cancer (CRC) is one of the called chronic non transmitted diseases. Most of CRC cases occur in individuals over 50 years of age and are developed as a consequence of a complex combination of multiple issues, such as environmental and genetic ones.\nNevertheless, some studies estimate that...
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| Formato: | Tesis de maestría acceptedVersion |
| Lenguaje: | Español |
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Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica
2023
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| Acceso en línea: | http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=afamaster&cl=CL1&d=HWA_7800 https://repositoriouba.sisbi.uba.ar/gsdl/collect/afamaster/index/assoc/HWA_7800.dir/7800.PDF |
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| Sumario: | Colorectal cancer (CRC) is one of the called chronic non transmitted diseases. Most of CRC cases occur in individuals over 50 years of age and are developed as a consequence of a complex combination of multiple issues, such as environmental and genetic ones.\nNevertheless, some studies estimate that approximately 20 percent of colorectal tumours have an identifiable genetic cause. Moreover, 5 percent of them are well-defined hereditary syndromes. Particularly, these ones have extremely high risk of evolving into cancer. The most frequent is Lynch Syndrome.\nThe present work seeks to determine the frequency and mutational profile of genes involved in the development of this syndrome. In order to shed light into it, 25 patients with CRC, who met clinical, histopathological or molecular criteria, were studied. A panel of genes was examined by next generation sequencing (NGS), confirmation of the variant was obtained by Sanger sequencing and Multiplex Ligation Probe Amplification (MLPA) was done if needed. In our population, we found that 50 % carried a mutation in MLH1 gene and 44% in MSH2.\nDue to the fact that our institution provides medical care to patients from all over the country, this study supplies valuable information about the distribution and frequency of these variants in Argentinian patients, making a contribution to generate a local genetic profile.\nFurthermore, given to the high incidence of this type of cancer and the scarcity of data at local level, the identification and registration of these variants, would allow a better management of patients with heritable CRC. |
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