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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/57777
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dc.creatorNilson Moreira Ciprianopt_BR
dc.creatorAmanda Marques de Britopt_BR
dc.creatorEneida Santos de Oliveirapt_BR
dc.creatorFabiana Castro de Fariapt_BR
dc.creatorSara Lemospt_BR
dc.creatorAngélica Nogueira Rodriguespt_BR
dc.creatorDébora de Oliveira Lopespt_BR
dc.creatorLuciana Lara Dos Santospt_BR
dc.date.accessioned2023-08-11T21:38:29Z-
dc.date.available2023-08-11T21:38:29Z-
dc.date.issued2018-12-11-
dc.citation.volume25pt_BR
dc.citation.issue6pt_BR
dc.citation.spage1pt_BR
dc.citation.epage9pt_BR
dc.identifier.doi10.1007/s12282-018-00938-zpt_BR
dc.identifier.issn1340-6868pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/57777-
dc.description.resumoBackground Few studies related to hereditary breast and ovarian cancer syndrome (HBOC) have been conducted in Brazil, and they are restricted to only small areas of the country. Here, we report the mutation profile of BRCA1/2, CHEK2 and TP53 genes in a cohort from Minas Gerais state.Methods: These genes from 44 patients at high risk for HBOC were screened through high-resolution melting and/or sequencing. The pathogenicity of the alterations was checked using ClinVar database and bioinformatics programs.Results In BRCA genes we identified 46 variants, 38 without clinical significance and 8 pathogenic mutations including a new pathogenic mutation in BRCA1 gene (c.4688_4694delACC TGG AinsG). The most prevalent pathogenic mutation was c.4829_4830delTG, in the BRCA2 gene. This mutation was not described in the Brazilian population up to now and in this study, it was described with a prevalence of 6.8%. The p.R337H mutation in TP53 gene was found in one patient clinically diagnosed as HBOC and without clinical criteria for Li-Fraumeni syndrome. In CHEK2 gene, the undescribed variant c.485A > G was found and it presents as probably pathogenic through in silico analyses. Pathogenic mutations were found in 29.5% of the patients, 11.3% in BRCA1, 15.9% in BRCA2 and 2.3% in TP53 gene. Conclusions Brazilian population is one of the most heterogeneous in the world and the mutational profile knowledge of genes related to HBOC from different regions can contribute to the definition of more cost-effective strategies for the prevention, identification and treatment of cancer.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofBreast Cancer-
dc.rightsAcesso Restritopt_BR
dc.subjectMutagenesis, Insertionalpt_BR
dc.subjectNeoplastic Syndromes, Hereditarypt_BR
dc.subjectOvarian Neoplasmspt_BR
dc.subject.otherSíndromes Neoplásicas Hereditáriaspt_BR
dc.subject.otherMutagênese Insercionalpt_BR
dc.subject.otherNeoplasias Ovarianaspt_BR
dc.titleMutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazilpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://link.springer.com/article/10.1007/s12282-018-00938-zpt_BR
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