Use este identificador para citar ou linkar para este item: https://repositorio.bahiana.edu.br:8443/jspui/handle/bahiana/3062
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dc.contributor.authorMiguel, Diego Santana Chaves Geraldo-
dc.contributor.authorPalmero, Edenir Inêz-
dc.contributor.authorCarraro, Dirce Maria-
dc.contributor.authorAlemar, Barbara-
dc.contributor.authorMoreira, Miguel Angelo Martins-
dc.contributor.authorSantos, Ândrea Ribeiro dos-
dc.contributor.authorSandes, Kiyoko Abe-
dc.contributor.authorGalvão, Henrique Campos Reis-
dc.contributor.authorReis, Rui Manuel-
dc.contributor.authorSouza, Cristiano de Pádua-
dc.contributor.authorCampacci, Natalia-
dc.contributor.authorAchatz, Maria Isabel-
dc.contributor.authorBrianese, Rafael Canfeld-
dc.contributor.authorFormiga, Maria Nirvana da Cruz-
dc.contributor.authorMakdissi, Fabiana Baroni-
dc.contributor.authorVargas, Fernando Regla-
dc.contributor.authorSantos, Anna Cláudia Evangelista dos-
dc.contributor.authorSeuanez, Hector N.-
dc.contributor.authorSouza, Kelly Rose Lobo de-
dc.contributor.authorO. Netto, Cristina B.-
dc.contributor.authorSilva, Patrícia Santos-
dc.contributor.authorSilva, Gustavo Stumpf da-
dc.contributor.authorBurbano, Rommel M. R.-
dc.contributor.authorSantos, Sidney-
dc.contributor.authorAssumpção, Paulo Pimentel-
dc.contributor.authorBernardes, Izabel Maria Monteiro-
dc.contributor.authorLopes, Taisa Manuela Bonfim Machado-
dc.contributor.authorBomfim, Thais Ferreira-
dc.contributor.authorToralles, Maria Betânia Pereira-
dc.contributor.authorNascimento, Ivana-
dc.contributor.authorGaricochea, Bernardo-
dc.contributor.authorSimon, Sergio D.-
dc.contributor.authorNoronha, Simone-
dc.contributor.authorLima, Fernanda Teresa de-
dc.contributor.authorChami, Anisse Marques-
dc.contributor.authorBittar, Camila Matzenbacher-
dc.contributor.authorBines, José-
dc.contributor.authorArtigalas, Osvaldo-
dc.contributor.authorDiz, Maria Del Pilar Esteves-
dc.contributor.authorLajus, Tirzah Braz Petta-
dc.contributor.authorGifoni, Ana Carolina Leite Vieira Costa-
dc.contributor.authorGuindalini, Rodrigo S. C.-
dc.contributor.authorCintra, Terezinha Sarquis-
dc.contributor.authorSchwartz, Ida V. D.-
dc.contributor.authorBernardi, Pricila-
dc.contributor.authorNogueira, Sonia Tereza dos Santos-
dc.contributor.authorHerzog, Josef-
dc.contributor.authorWeitze, Jefrey N.-
dc.contributor.authorProlla, Patricia Ashton-
dc.date.accessioned2019-07-22T11:27:56Z-
dc.date.available2019-07-22T11:27:56Z-
dc.date.issued2018-06-15-
dc.identifier.issn2045-2322-
dc.identifier.numberV.8pt_BR
dc.identifier.urihttp://www7.bahiana.edu.br//jspui/handle/bahiana/3062-
dc.description.abstractThe detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective.pt_BR
dc.language.isoenpt_BR
dc.sourcehttps://www.nature.com/articles/s41598-018-27315-2pt_BR
dc.titleThe germline mutational landscape of BRCA1 and BRCA2 in Brazilpt_BR
dc.title.alternativeScientific Reportspt_BR
dc.typeProdução bibliográfica: Artigos completos publicados em periódicospt_BR
Aparece nas coleções:Artigos Completos Publicados em Periódicos

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