UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y...
Breast cancer (BC) is a multifactorial disease that results from a complex combination of genetic and environmental factors. The family history of Hereditary Breast and Ovarian Cancer (HBOC) is the main risk factor for this condition. In the polygenic model of susceptibility to BC, the prevalence of...
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| Formato: | Tesis de maestría acceptedVersion |
| Lenguaje: | Español |
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Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica
2017
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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_2068 https://repositoriouba.sisbi.uba.ar/gsdl/collect/afamaster/index/assoc/HWA_2068.dir/2068.PDF |
| Aporte de: |
| Sumario: | Breast cancer (BC) is a multifactorial disease that results from a complex combination of genetic and environmental factors. The family history of Hereditary Breast and Ovarian Cancer (HBOC) is the main risk factor for this condition. In the polygenic model of susceptibility to BC, the prevalence of germline mutations in the TP53 gene in families with HBOC, not associated with mutation in BRCA1 or BRCA2, is being studied worldwide.
In the present work, we aimed to determine the presence of pathogenic genetic variants (GV´s) in the hot spot exons in the germinal line of the TP53 gene in patients with HBOC criteria not associated with mutation in BRCA1/2 or Li Fraumeni Syndrome. For this, 74 subjects with BC and / or OC with / without family history of the disease were studied. Genetic analyzes included Sanger sequencing in exons 5, 6, 7 and 8 of the TP53 gene. In this population were found 4 GV's of which 2 were pathogenic (2/74, 2.7%). After a bioinformatic analysis, these deleterious mutations were associated with aggressive pathogenic characteristics. These results generate knowledge that will allow in the future to identify the distribution and frequency of GV´s as susceptibility or risk factors for the development of HBOC, providing the basis for further studies to determine its distribution throughout the country and contribute knowledge of the epidemiological profile genetic basis. Given the great heterogeneity of cancer worldwide, the identification and registration of locally found cases in each area, allow directing the strategies of management of the pathologies, adapting to the population studied. |
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