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- W2328295964 abstract "Abstract #6020 Introduction: Of all malignant neoplasia among women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to ascertain the frequency of genetic modifications in a high risk population for breast and ovarian cancer from different regions of Brazil. Methods: An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high risk families to breast and/or ovarian cancer. Following the respective heredogram construction, a sample of blood was taken and DNA extraction was performed to all index cases. The protein truncation test (PTT) was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Results: Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. BRCA1 mutations consisted of ins6kb, 5382insC, 2156delGinsCC, 185delAG, C1201G, C3522T and 3450del4 mutations, while BRCA2 mutations were 5878del10, 5036delA and 4232insA. Conclusion: The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies in Brazil. The inclusion of individuals with medium risk may have contributed towards the lower observed prevalence. Nevertheless, individuals with a high probability of carrying mutations should be advised with respect to the possibility of undergoing genetic testing, and of the risks, benefits and limitations of these tests. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 6020." @default.
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- W2328295964 date "2009-01-15" @default.
- W2328295964 modified "2023-09-27" @default.
- W2328295964 title "Prevalence of BRCA1 and BRCA2 genes mutations in a sample of families with high risk of breast and ovarian cancer in Brazil." @default.
- W2328295964 doi "https://doi.org/10.1158/0008-5472.sabcs-6020" @default.
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