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| Emerenciano,M.; Koifman,S.; Pombo-de-Oliveira,M.S.. |
| Acute leukemia in early childhood is biologically and clinically distinct. The particular characteristics of this malignancy diagnosed during the first months of life have provided remarkable insights into the etiology of the disease. The pro-B, CD10 negative immunophenotype is typically found in infant acute leukemia, and the most common genetic alterations are the rearrangements of the MLL gene. In addition, the TEL/AML1 fusion gene is most frequently found in children older than 24 months. A molecular study on a Brazilian cohort (age range 0-23 months) has detected TEL/AML1+ve (N = 9), E2A/PBX1+ve (N = 4), PML/RARA+ve (N = 4), and AML1/ETO+ve (N = 2) cases. Undoubtedly, the great majority of genetic events occurring in these patients arise prenatally.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Infant acute leukemia; MLL; Acute lymphoblastic leukemia; Acute myeloid leukemia; Maternal exposures; Molecular and exploratory epidemiology. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600002 |
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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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