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| 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.. |
| 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> C) in intron 17 affecting a mRNA splicing site (one... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: BRCA1; Breast cancer; Ovarian cancer. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400006 |
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