Home Itens selecionados Provedores de dados OAI Créditos Sobre Ajuda

			Busca avançada
	Provedor de dados Biol. Res. (2) Autor AMPUERO,SANDRA (2) BLANCO,RAFAEL (2) BUSTAMANTE,MARIO (2) JARA,LILIAN (2) OJEDA,JOSÉ MANUEL (2) SECCIA,LORENA (2) LAY-SON,GUILLERMO (1) REYES,JOSÉ MIGUEL (1) RODRÍGUEZ,JUAN (1) SANTIBÁÑEZ,EUDOCIA (1) Mais... Palavra-chave 4185delCAAG (1) BRCA1 and BRCA2 genes (1) BRCA1 gene (1) Breast Cancer (1) Chilean Women (1) Chilean population (1) Frequent mutations (1) Mutations (1) New mutation (1) Polymorphism (1) Mais... Tipo do documento Journal article (2) Ano 2004 (1) 2002 (1) País Chile (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer Biol. Res. JARA,LILIAN; AMPUERO,SANDRA; SECCIA,LORENA; BUSTAMANTE,MARIO; BLANCO,RAFAEL; OJEDA,JOSÉ MANUEL. Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cancer susceptibility genes, and mutations in these genes are related to inherited breast cancer. In specific populations only some mutations have been found to be associated with susceptibility. The purpose of this study was to establish the frequency of 5382insC (BRCA1) and 6174delT (BRCA2) germline mutations in 382 healthy Chilean women with at least two relatives affected with breast cancer and in probands and their relatives from 8 high risk families for breast... Tipo: Journal article Palavras-chave: Breast Cancer; BRCA1 and BRCA2 genes; Mutations; Chilean Women. Ano: 2002 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602002000100011 Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families Biol. Res. JARA,LILIAN; AMPUERO,SANDRA; SANTIBÁÑEZ,EUDOCIA; SECCIA,LORENA; RODRÍGUEZ,JUAN; BUSTAMANTE,MARIO; LAY-SON,GUILLERMO; OJEDA,JOSÉ MANUEL; REYES,JOSÉ MIGUEL; BLANCO,RAFAEL. BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found... Tipo: Journal article Palavras-chave: BRCA1 gene; Frequent mutations; Polymorphism; 4185delCAAG; New mutation; Chilean population. Ano: 2004 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602004000300011 Registros recuperados: 2 Primeira ... 1 ... Última

Empresa Brasileira de Pesquisa Agropecuária - Embrapa Todos os direitos reservados, conforme Lei n° 9.610 Política de Privacidade Área restrita		Embrapa Parque Estação Biológica - PqEB s/n° Brasília, DF - Brasil - CEP 70770-901 Fone: (61) 3448-4433 - Fax: (61) 3448-4890 / 3448-4891 SAC: https://www.embrapa.br/fale-conosco