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	Provedor de dados Genet. Mol. Biol. (2) Autor Ashton-Prolla,Patricia (2) Schlatter,Rosane Paixão (2) Fitarelli-Kiehl,Mariana (1) Giacomazzi,Juliana (1) Koehler-Santos,Patricia (1) Koehler-Santos,Patrícia (1) Macedo,Gabriel S. (1) Matte,Ursula (1) Matte,Ursula da Silveira (1) Polanczyk,Carisi Anne (1) Mais... Palavra-chave Cost analysis (1) HRM (1) Hereditary cancer (1) Molecular diagnosis (1) RFLP (1) Sanger Sequencing (1) TP53-p.R337H (1) TaqMan (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2016 (1) 2015 (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 Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies Genet. Mol. Biol. Schlatter,Rosane Paixão; Matte,Ursula; Polanczyk,Carisi Anne; Koehler-Santos,Patrícia; Ashton-Prolla,Patricia. This study identifies and describes the operating costs associated with the molecular diagnosis of diseases, such as hereditary cancer. To approximate the costs associated with these tests, data informed by Standard Operating Procedures for various techniques was collected from hospital software and a survey of market prices. Costs were established for four scenarios of capacity utilization to represent the possibility of suboptimal use in research laboratories. Cost description was based on a single site. The results show that only one technique was not impacted by rising costs due to underutilized capacity. Several common techniques were considerably more expensive at 30% capacity, including polymerase chain reaction (180%), microsatellite instability... Tipo: Info:eu-repo/semantics/article Palavras-chave: Molecular diagnosis; Hereditary cancer; Cost analysis. Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300332 Registros recuperados: 2 Primeira ... 1 ... Última

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