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

Detalhes bibliográficos
Autor(a) principal: Santos-Jr., Gilson Costa dos
Data de Publicação: 2012
Outros Autores: Góes, Andréa Carla de Souza, Vitto, Humberto de, Moreira, Carla Cristina, Avvad, Elizabeth, Rumjanek, Franklin David, Gallo, Claudia Vitoria de Moura
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/9167
Resumo: Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
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spelling Santos-Jr., Gilson Costa dosGóes, Andréa Carla de SouzaVitto, Humberto deMoreira, Carla CristinaAvvad, ElizabethRumjanek, Franklin DavidGallo, Claudia Vitoria de Moura2014-12-12T14:13:34Z2014-12-12T14:13:34Z2012SANTOS-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.https://www.arca.fiocruz.br/handle/icict/916710.6061/clinics/2012(10)10engFaculdade de Medicina, Universidade de Sao PauloGenomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic brazilian breast cancer casesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Bioquímica Médica. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Patologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Bioquímica Médica. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.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.Breast CancerSTRsAllelic ImbalanceLOHSomatic mtDNA MutationNeoplasias da MamaDesequilíbrio AlélicoDNA Mitocondrialinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/9167/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALGenomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases.pdfGenomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases.pdfapplication/pdf695763https://www.arca.fiocruz.br/bitstream/icict/9167/2/Genomic%20instability%20at%20the%2013q31%20locus%20and%20somatic%20mtDNA%20mutation%20in%20the%20D-loop%20site%20correlate%20with%20tumor%20aggressiveness%20in%20sporadic%20Brazilian%20breast%20cancer%20cases.pdf3156543bd81409180c3f2a99c0a5ba01MD52TEXTGenomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases.pdf.txtGenomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases.pdf.txtExtracted texttext/plain39038https://www.arca.fiocruz.br/bitstream/icict/9167/3/Genomic%20instability%20at%20the%2013q31%20locus%20and%20somatic%20mtDNA%20mutation%20in%20the%20D-loop%20site%20correlate%20with%20tumor%20aggressiveness%20in%20sporadic%20Brazilian%20breast%20cancer%20cases.pdf.txt30c139aabd676d063704710ced9fde10MD53icict/91672018-04-06 08:43:57.515oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-04-06T11:43:57Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv 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
title 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
spellingShingle 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
Santos-Jr., Gilson Costa dos
Breast Cancer
STRs
Allelic Imbalance
LOH
Somatic mtDNA Mutation
Neoplasias da Mama
Desequilíbrio Alélico
DNA Mitocondrial
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
author Santos-Jr., Gilson Costa dos
author_facet Santos-Jr., Gilson Costa dos
Góes, Andréa Carla de Souza
Vitto, Humberto de
Moreira, Carla Cristina
Avvad, Elizabeth
Rumjanek, Franklin David
Gallo, Claudia Vitoria de Moura
author_role author
author2 Góes, Andréa Carla de Souza
Vitto, Humberto de
Moreira, Carla Cristina
Avvad, Elizabeth
Rumjanek, Franklin David
Gallo, Claudia Vitoria de Moura
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Santos-Jr., Gilson Costa dos
Góes, Andréa Carla de Souza
Vitto, Humberto de
Moreira, Carla Cristina
Avvad, Elizabeth
Rumjanek, Franklin David
Gallo, Claudia Vitoria de Moura
dc.subject.en.pt_BR.fl_str_mv Breast Cancer
STRs
Allelic Imbalance
LOH
Somatic mtDNA Mutation
topic Breast Cancer
STRs
Allelic Imbalance
LOH
Somatic mtDNA Mutation
Neoplasias da Mama
Desequilíbrio Alélico
DNA Mitocondrial
dc.subject.decs.pt_BR.fl_str_mv Neoplasias da Mama
Desequilíbrio Alélico
DNA Mitocondrial
description Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcantara Gomes. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
publishDate 2012
dc.date.issued.fl_str_mv 2012
dc.date.accessioned.fl_str_mv 2014-12-12T14:13:34Z
dc.date.available.fl_str_mv 2014-12-12T14:13:34Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv 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.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/9167
dc.identifier.doi.none.fl_str_mv 10.6061/clinics/2012(10)10
identifier_str_mv 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.
10.6061/clinics/2012(10)10
url https://www.arca.fiocruz.br/handle/icict/9167
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Faculdade de Medicina, Universidade de Sao Paulo
publisher.none.fl_str_mv Faculdade de Medicina, Universidade de Sao Paulo
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/9167/1/license.txt
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