Please use this identifier to cite or link to this item: https://ninho.inca.gov.br/jspui/handle/123456789/6851
Title: BRCA1 mutations in Brazilian patients
Authors: Lourenço, Juliano Javert
Vargas, Fernando Regla
Bines, José
Silva, Carlos Henrique Debenedito
Santos, Elizete Nogueira dos
Lasmar, Luis Cezar Chehab
Costa, Célia
Teixeira, Eliane
Coura, Fátima
Moreira, Miguel Angelo Martins
Keywords: Genes, BRCA1
Breast Neoplasms
Neoplasias da Mama
Ovarian Neoplasms
Neoplasias Ovarianas
Issue Date: 2004
Publisher: Genetics and Molecular Biology
Citation: LOURENÇO, Juliano Javert et al. BRCA1 mutations in Brazilian patients. Genetics and Molecular Biology, v. 27, n.4, p. 500-504, 2004.
Abstract: 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 patient), and aC>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.
Description: p. 500-504.: tab. p&b.
URI: http://sr-vmlxaph03:8080/jspui/handle/123456789/6851
ISSN: 1678-4685
Appears in Collections:Artigos de Periódicos da área de Enfermagem

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