ISSN 0100-879X Short Communication Prevalence of BRCA1 and.pdfVIP

Brazilian Journal of Medical and Biological Research (2009) 42: 453-457 Mutations in families at risk for breast cancer 453 ISSN 0100-879X Short Communication Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil 1 3,4 1 2 2 V.F. Esteves , L.C.S. Thuler , L.C. Amêndola , R.J. Koifman , S. Koifman , P.P. Frankel1 1 , R.J.S. Vieira and The Brazilian Network of Breast and Ovarian Familial Cancer Aggregation 1Instituto Fernandes Figueira, 2 Escola Nacional de Saúde Pública, FIOCRUZ, Rio de Janeiro, RJ, Brasil 3Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil 4 Instituto Nacional de Câncer, Rio de Janeiro, RJ, Brasil Correspondence to: R.J.S. Vieira, Rua Visconde de Pirajá, 351, Sala 615, 22410-003 Rio de Janeiro, RJ, Brasil E-mail: rvieira@.br, rvieira@.br or rvieira@iff.fiocruz.br Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in t