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...
Guardado en:
| Autor principal: | |
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| Otros Autores: | |
| Formato: | Tesis de maestría acceptedVersion |
| Lenguaje: | Español |
| Publicado: |
Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica
2017
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| Materias: | |
| 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: |
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I28-R145-HWA_2068 |
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| record_format |
dspace |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-145 |
| collection |
Repositorio Digital de la Universidad de Buenos Aires (UBA) |
| language |
Español |
| orig_language_str_mv |
spa |
| topic |
Cáncer de mama Cáncer de mama/ovario hereditario TP53 Variantes genéticas patogénicas Línea germinal Breast cancer Hereditary breast / ovarian cancer TP53 Pathogenic genetic variants Germ line Ciencias de la vida |
| spellingShingle |
Cáncer de mama Cáncer de mama/ovario hereditario TP53 Variantes genéticas patogénicas Línea germinal Breast cancer Hereditary breast / ovarian cancer TP53 Pathogenic genetic variants Germ line Ciencias de la vida Ozkul, María del Carmen UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| topic_facet |
Cáncer de mama Cáncer de mama/ovario hereditario TP53 Variantes genéticas patogénicas Línea germinal Breast cancer Hereditary breast / ovarian cancer TP53 Pathogenic genetic variants Germ line Ciencias de la vida |
| description |
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. |
| author2 |
Cerretini, Roxana Inés |
| author_facet |
Cerretini, Roxana Inés Ozkul, María del Carmen |
| format |
Tesis de maestría Tesis de maestría acceptedVersion |
| author |
Ozkul, María del Carmen |
| author_sort |
Ozkul, María del Carmen |
| title |
UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| title_short |
UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| title_full |
UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| title_fullStr |
UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| title_full_unstemmed |
UNIVERSIDAD DE BUENOS AIRES DEPARTAMENTO DE FARMACIA Y... |
| title_sort |
universidad de buenos aires departamento de farmacia y... |
| publisher |
Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica |
| publishDate |
2017 |
| url |
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 |
| work_keys_str_mv |
AT ozkulmariadelcarmen universidaddebuenosairesdepartamentodefarmaciay AT ozkulmariadelcarmen busquedadevariantesgeneticaspatogenicasenlalineagerminaldelgentp53enpacientesconcancerdemamaovariohereditarioenargentina |
| _version_ |
1824356490352263168 |
| spelling |
I28-R145-HWA_20682024-11-12 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 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. Fil: Ozkul, María del Carmen. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica, Argentina Cerretini, Roxana Inés Ozkul, María del Carmen 2017-11-08 El cáncer de mama (CM) es una enfermedad multifactorial que resulta de una combinación compleja de factores genéticos y medioambientales. La historia familiar de Cáncer de Mama y/u Ovario Hereditario (HBOC), es el principal factor de riesgo para este padecimiento. A nivel mundial, en el modelo poligénico de susceptibilidad al CM, se encuentra en estudio la prevalencia de mutaciones en la línea germinal del gen TP53 en familias con HBOC, no asociado a mutación en BRCA1 o BRCA2. En el presente trabajo buscamos determinar la presencia de variantes genéticas (VG´s) patogénicas en los exones ?hot spot? en la línea germinal del gen TP53 en pacientes con criterio de HBOC no asociados a mutación en BRCA1/2 ni Síndrome de Li Fraumeni (SLF). Para ello se estudiaron 74 sujetos con CM y/o CO, con/sin historia familiar de la enfermedad. Los análisis genéticos incluyeron secuenciación por Sanger en los exones 5, 6, 7 y 8 del gen TP53. En esta población fueron encontradas 4 VG´s de las cuales 2 resultaron patogénicas (2/74, 2.7%). Tras un análisis bioinformático, estas mutaciones deletéreas fueron asociadas con características patogénicas agresivas. Estos resultados generan conocimientos que permitirán a futuro identificar la distribución y frecuencia de las VG´s como factores de susceptibilidad o riesgo para el desarrollo de HBOC, proporcionando las bases para estudios posteriores que permitan determinar su distribución en todo el país y aportar el conocimiento del perfil epidemiológico genético local. Dada la gran heterogeneidad del cáncer a nivel mundial, la identificación y registro de los casos encontrados localmente en cada área, permiten dirigir las estrategias de manejo de las patologías, adecuándose a la población estudiada. application/pdf Fundia, Ariela Rivolta, Carina Cotignola, Javier Cáncer de mama Cáncer de mama/ovario hereditario TP53 Variantes genéticas patogénicas Línea germinal Breast cancer Hereditary breast / ovarian cancer TP53 Pathogenic genetic variants Germ line spa Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc-nd/2.5/ar/ Ciencias de la vida Biología Molecular Médica Magíster de la Universidad de Buenos Aires Búsqueda de variantes genéticas patogénicas en la linea germinal del gen TP53 en pacientes con cáncer de mama/ovario hereditario en Argentina info:eu-repo/semantics/masterThesis info:ar-repo/semantics/tesis de maestría info:eu-repo/semantics/acceptedVersion 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 |