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| Esteves,V.F.; Thuler,L.C.S.; Amêndola,L.C.; Koifman,R.J.; Koifman,S.; Frankel,P.P.; Vieira,R.J.S.. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breast cancer; BRCA1; BRCA2; Mutations; Brazil. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500009 |
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