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| Maciel,Marcos Euzébio; Oliveira,Fausto Koga; Propst,Gustavo Bonfim; Bicalho,Maria da Graça; Cavalli,Iglenir João; Ribeiro,Enilze Maria de Souza Fonseca. |
| Individual variability in xenobiotic metabolism has been associated with susceptibility to developing complex diseases. Genes involved in xenobiotic metabolism have been evaluated in association studies; the difficulty of obtaining accurate gene frequencies in mixed populations makes interpretation of the results difficult. We sought to estimate population parameters for the cytochrome P450 and glutathione S-transferase gene families, thus contributing to studies using these genes as markers. We describe the frequencies of six genes (CYP1A1, CYP2D6, CYP2E1, GSTM1, GSTT1, and GSTP1) and estimate population parameters in 115 Euro-descendants and 196 Afro-descendants from Curitiba, South of Brazil. PCR-based methods were used for genotyping, and statistical... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CYP; GST; Population study. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400010 |
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| Brincas,Heloisa Magagnin; Augusto,Danillo G.; Mathias,Carolina; Cavalli,Iglenir João; Lima,Rubens Silveira de; Kuroda,Flávia; Urban,Cícero de Andrade; Gradia,Daniela Fiori; de Oliveira,Jaqueline; de Almeida,Rodrigo Coutinho; Ribeiro,Enilze Maria de Souza Fonseca. |
| Abstract MicroRNAs (miRNAs) play an essential role in gene expression and affect the development of tumours, including breast cancer (BC). Polymorphisms in miRNA genes can affect the interaction of miRNAs with their target messenger RNA by interfering, creating or disrupting target sites. The single nucleotide polymorphism (SNP) rs2910164, located in the seed region of miR146a, was shown to be associated with BC among different populations. In the present study, we investigated whether rs2910164 is associated with BC in 326 patients and 411 controls from a Brazilian population of predominantly European ancestry. The presence of the allele rs2910164*C was associated with an increased risk of BC (OR=1.4, 95% CI=1.03-1.85, p = 0.03). We also analysed publicly... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MiRNA polymorphism; MiR146a; Rs2910164; Breast cancer; Case-control study. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500103 |
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| Serino,Leandro Tamião Rodrigues; Jucoski,Tayana Schultz; Morais,Stephanie Bath de; Fernandes,Cíntia Callegari Coêlho; Lima,Rubens Silveira de; Urban,Cícero Andrade; Cavalli,Luciane Regina; Cavalli,Iglenir João; Ribeiro,Enilze Maria de Souza Fonseca. |
| Abstract Copy number alterations (CNAs) are a frequent feature in human breast cancer, and one of the hallmarks of genomic instability. The FOSL1, GSTP1 and CCND1 genes are located at 11q13, a cytoband commonly affected by CNA in breast cancer, with relevant function in progression and invasion. Our main goal was to analyze CNAs of these genes and determine their association with breast cancer subtypes. Seventy-three cases of invasive breast tumors [52 Luminal, 7 HER2+ and 14 triple negative (TNBC) subtypes] were analyzed by TaqMan assays. CNAs were observed for all genes, with gains more frequently observed. Gains of the FOSL1 gene were observed in 71% of the cases. This gene was the only one with a statistically significant difference (p<0.001) among... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Triple negative breast cancer; TNBC; DNA copy number alterations; CNA. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100026 |
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