Data/hora: 09/06/2024 12:49:17

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	BRCA1 mutations in Brazilian patients	
Autores: 	Lourenço,Juliano Javert; Vargas,Fernando R.; Bines,José; Santos,Elizete M.; Lasmar,Cezar A. P.; Costa,Célia H.; Teixeira,Eliane M. B.; Maia,Maria C. M.; Coura,Fátima; Silva,Carlos H. D.; Moreira,Miguel A. M.	
Data: 	2004-01-01	
Ano: 	2004	
Palavras-chave: 	BRCA1; Breast cancer; Ovarian cancer.	
Resumo: 	BRCA1 mutations are known to be responsible for the majority of hereditary breast and ovarian cancers in women with early onset and a family history of the disease. In this paper we present a mutational survey conducted in 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male patients. All 22 coding exons and intron-exon junctions were sequenced. Constitutional mutations were found in seven families, consisting of one insertion (insC5382) in exon 20 (four patients), one four base-pair deletion (3450-3453delCAAG) in exon 11 resulting in a premature stop codon (one patient), one transition (IVS17+2T&gt; C) in intron 17 affecting a mRNA splicing site (one patient), and a C&gt; T transition resulting in a stop-codon (Q1135X) in exon 11 (one patient). The identification of these mutations which are associated to hereditary breast and ovarian cancers will contribute to the characterization of the mutational spectrum of BRCA1 and to the improvement of genetic counseling for familial breast/ovarian cancer patients in Brazil.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572004000400006	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.27 n.4 2004	
Fonte: 	info:eu-repo/semantics/openAccess