Mostrar el registro sencillo del ítem
Autor | Santos-Jr., Gilson Costa dos | |
Autor | Góes, Andréa Carla de Souza | |
Autor | Vitto, Humberto de | |
Autor | Moreira, Carla Cristina | |
Autor | Avvad, Elizabeth | |
Autor | Rumjanek, Franklin David | |
Autor | Gallo, Claudia Vitoria de Moura | |
Fecha de acceso | 2014-12-12T14:13:34Z | |
Fecha de disponibilización | 2014-12-12T14:13:34Z | |
Fecha de publicación | 2012 | |
Referencia | SANTOS-JUNIOR, Gilson Costa dos. et al. Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic brazilian breast cancer cases. Clinics., Sao Paulo, v. 67, n. 10, p. 1181-1190, 2012. | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/9167 | |
Idioma | eng | pt_BR |
Editor | Faculdade de Medicina, Universidade de Sao Paulo | pt_BR |
Derechos de autor | open access | pt_BR |
Título | Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic brazilian breast cancer cases | pt_BR |
Tipo del documento | Article | pt_BR |
DOI | 10.6061/clinics/2012(10)10 | |
Resumen en Inglés | OBJECTIVE:Genomic instability is a hallmark of malignant tissues. In this work, we aimed to characterize nuclear and mitochondrial instabilities by determining short tandem repeats and somatic mitochondrial mutations, respectively, in a cohort of Brazilian sporadic breast cancer cases. Furthermore, we performed an association analysis of the molecular findings and the clinical pathological data. METHODS:We analyzed 64 matched pairs of breast cancer and adjacent non-cancerous breast samples by genotyping 13 nuclear short tandem repeat loci (namely, D2S123, TPOX, D3S1358, D3S1611, FGA, D7S820, TH01, D13S317, D13S790, D16S539, D17S796, intron 12 BRCA1 and intron 1 TP53) that were amplified with the fluorescent AmpFlSTR Identifiler Genotyping system (Applied Biosystems, USA) and by silver nitrate staining following 6% denaturing polyacrylamide gel electrophoresis. Somatic mtDNA mutations in the D-loop site were assessed with direct sequencing of the hypervariable HVI and HVII mitochondrial regions. RESULTS:Half of the cancer tissues presented some nuclear instability. Interestingly, the D13S790 locus was the most frequently affected (36%), while the D2S123 locus presented no alterations. Forty-two percent of the cases showed somatic mitochondrial mutations, the majority at region 303-315 poly-C. We identified associations between Elston grade III, instabilities at 13q31 region (p= 0.0264) and mtDNA mutations (p= 0.0041). Furthermore, instabilities at 13q31 region were also associated with TP53mutations in the invasive ductal carcinoma cases (p= 0.0207). CONCLUSION:Instabilities at 13q31 region and the presence of somatic mtDNA mutations in a D-loop site correlated with tumor aggressiveness. | pt_BR |
Afiliación | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade Federal do Rio de Janeiro. Instituto de Bioquímica Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Patologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade Federal do Rio de Janeiro. Instituto de Bioquímica Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Afiliación | Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Palavras clave en Inglês | Breast Cancer | pt_BR |
Palavras clave en Inglês | STRs | pt_BR |
Palavras clave en Inglês | Allelic Imbalance | pt_BR |
Palavras clave en Inglês | LOH | pt_BR |
Palavras clave en Inglês | Somatic mtDNA Mutation | pt_BR |
DeCS | Neoplasias da Mama | pt_BR |
DeCS | Desequilíbrio Alélico | pt_BR |
DeCS | DNA Mitocondrial | pt_BR |
Ficheros en el ítem
Este ítem aparece en la(s) siguiente(s) colección(ones)
-
IFF - Artigos de Periódicos [1265]