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	Provedor de dados Genet. Mol. Biol. (3) Autor Ashton-Prolla,Patricia (2) Giugliani,Roberto (2) Palmero,Edenir Inêz (2) Alemar,Bárbara (1) Caleffi,Maira (1) Calvez-Kelm,Florence Le (1) Campacci,Natalia (1) Cossio,Silvia Liliana (1) Deissler,Heidrun L. (1) Deissler,Helmut (1) Ewald,Ingrid Petroni (1) Hainaut,Pierre (1) Herman,Sandra (1) Kreienberg,Rolf (1) Moreira-Filho,Carlos Alberto (1) Oliveira Netto,Cristina Brinkmann de (1) Ribeiro,Patricia Lisbôa Izetti (1) Rocha,José Claudio Casali da (1) Santos,Patricia Koehler dos (1) Schüler-Faccini,Lavinia (1) Mais... Palavra-chave Hereditary breast cancer (3) Breast cancer predisposition syndrome (1) Cancer risk perception (1) Cancer-related worry (1) DNA sequencing (1) Genetic cancer risk assessment (1) Genetic counselling (1) Hereditary cancer (1) Model calculations (1) Mutation analysis (1) PCR (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Info:eu-repo/semantics/other (1) Ano 2020 (1) 2016 (1) 2012 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer Genet. Mol. Biol. Palmero,Edenir Inêz; Campacci,Natalia; Schüler-Faccini,Lavinia; Giugliani,Roberto; Rocha,José Claudio Casali da; Vargas,Fernando Regla; Ashton-Prolla,Patricia. Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis... Tipo: Info:eu-repo/semantics/other Palavras-chave: Hereditary breast cancer; Hereditary cancer; Cancer-related worry; Cancer risk perception; Genetic counselling. Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400104 Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses Genet. Mol. Biol. Herman,Sandra; Varga,Dominic; Deissler,Heidrun L.; Kreienberg,Rolf; Deissler,Helmut. We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation analysis; DNA sequencing; PCR; Hereditary breast cancer; Model calculations. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007 Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil Genet. Mol. Biol. Palmero,Edenir Inêz; Alemar,Bárbara; Schüler-Faccini,Lavínia; Hainaut,Pierre; Moreira-Filho,Carlos Alberto; Ewald,Ingrid Petroni; Santos,Patricia Koehler dos; Ribeiro,Patricia Lisbôa Izetti; Oliveira Netto,Cristina Brinkmann de; Calvez-Kelm,Florence Le; Tavtigian,Sean; Cossio,Silvia Liliana; Giugliani,Roberto; Caleffi,Maira; Ashton-Prolla,Patricia. Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening,... Tipo: Info:eu-repo/semantics/article Palavras-chave: Breast cancer predisposition syndrome; Hereditary breast cancer; Genetic cancer risk assessment. Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200210 Registros recuperados: 3 Primeira ... 1 ... Última

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