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	Provedor de dados Genet. Mol. Biol. (2) Autor Ashton-Prolla,Patricia (2) Macedo,Gabriel S. (2) Alemar,Barbara (1) Fitarelli-Kiehl,Mariana (1) Giacomazzi,Juliana (1) Koehler-Santos,Patricia (1) Matte,Ursula da Silveira (1) Schlatter,Rosane Paixão (1) Mais... Palavra-chave BRCA1 (1) BRCA2 (1) Cancer predisposition (1) HRM (1) Homologous recombination (1) PARP inhibitors (1) RFLP (1) Sanger Sequencing (1) TP53-p.R337H (1) TaqMan (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2019 (1) 2016 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53 Genet. Mol. Biol. Fitarelli-Kiehl,Mariana; Macedo,Gabriel S.; Schlatter,Rosane Paixão; Koehler-Santos,Patricia; Matte,Ursula da Silveira; Ashton-Prolla,Patricia; Giacomazzi,Juliana. Abstract Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the... Tipo: Info:eu-repo/semantics/article Palavras-chave: TP53-p.R337H; RFLP; TaqMan; HRM; Sanger Sequencing. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200203 Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era Genet. Mol. Biol. Macedo,Gabriel S.; Alemar,Barbara; Ashton-Prolla,Patricia. Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer. The identification of BRCA1, BRCA2 and PALB2 as proteins involved in DNA double-strand break repair by homologous recombination and of the impact of complete loss of BRCA1 or BRCA2 within tumors have allowed the development of novel therapeutic approaches for patients with germline or somatic mutations in said genes. Despite the advances, especially in the clinical use of PARP... Tipo: Info:eu-repo/semantics/article Palavras-chave: BRCA1; BRCA2; Homologous recombination; Cancer predisposition; PARP inhibitors. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200215 Registros recuperados: 2 Primeira ... 1 ... Última

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