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Registros recuperados: 6
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A genetic variant in microRNA-146a is associated with sporadic breast cancer in a Southern Brazilian Population Genet. Mol. Biol.
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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Association of FOSL1 copy number alteration and triple negative breast tumors Genet. Mol. Biol.
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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Cytogenetic study of Brazilian patients with myelodysplastic syndrome (MDS) Genet. Mol. Biol.
Borgonovo,Tamara; Ribeiro,Enilze M.S.F.; Cornélio,Déborah Afonso; Schmid-Braz,Ana Teresa; Jamur,Valderez Ravaglio; Wuicik,Lismeri; Veiga,Loraine Beatriz Acosta; Ehmke,Néria A. Maia; Pasquini,Ricardo; Cavalli,Iglenir João.
Bone marrow cytogenetic studies were performed on 93 patients with primary myelodysplastic syndrome (MDS) diagnosed at the Clinical Hospital of the Federal University of Paraná, Brazil. Chromosomal alterations were observed in 69% of the patients. Monosomy of chromosome 7, deletions of 7q, 5q, 12p and 20q, rearrangements of 11q23 and trisomies of chromosomes 8 and 21 were the most frequent abnormalities observed. Among adult patients the most frequent aberrations were rearrangements of 11q23 and 12p deletions. In the pediatric group, 5q deletions and monosomy of chromosome 7 were the most common alterations.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hematological disorders; Myelodysplasias; Cancer cytogenetics.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500002
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Microsatellite studies on an isolated population of African descent in the Brazilian state of Bahia Genet. Mol. Biol.
Barbosa,Ana Angélica Leal; Sousa,Sandra Mara Bispo; Abé-Sandes,Kiyoko; Alonso,Carlos Alberto; Schneider,Vicente; Costa,Denise C.C.; Cavalli,Iglenir João; Azevêdo,Eliane Elisa Souza.
The African descent population of the Bananal community in the Brazilian state of Bahia (BA) was characterized as a genetic isolate and analyzed for some short tandem repeat (STR) microsatellite autosomic polymorphic loci (CSF1PO, TH01, TPOX, F13A1, FESFPS and vWA). These genetic variants were further compared to data obtained from an urban sample from the town of Jequié (BA) regarding demographic and anthropogenetic aspects. The Bananal sample comprised 32 unrelated individuals whereas Jequié was represented by 76 individuals. The Bananal Negroid Phenotypic Index (NPI) was 0.98 and the Negroid Cultural Index (NCI) 0.24. Consanguineous marriages occurred at a frequency of 34.61% and the F value was 0.0126. All six loci studied were in Hardy-Weinberg...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Microsatellite; African-descendant isolate.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100004
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Population analysis of xenobiotic metabolizing genes in South Brazilian Euro and Afro-descendants Genet. Mol. Biol.
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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Unexpected chromosomal alterations in Tayassu tajacu (Artiodactyla: Tayassuidae) in captivity Braz. J. Vet. Res. Anim. Sci.
Lima,José Fernando de Sousa; Guedes,Fátima Becker; Silva,Roxane Wirschum; Hass,Iris; Cavalli,Iglenir João; Silva,Juliana da; Freitas,Thales Renato de; Sbalqueiro,Ives José.
Wild animals have been used as bioindicators in situations in which the environment was exposed to chemical agents. In general, chemical agents may induce chromosomal aberrations, such as breaks and gaps. The peccary, Tayassu tajacu is a pig relative that exhibits a very stable karyotype with the only described alterations being of the form of the X chromosome. Chromosomal gaps and breaks were observed at high frequencies during cytogenetics analyses. These alterations were observed in the chromosomes autossomics. Reviews of the literature and of the data described herein suggests that an vermifuge, the ivermectin base, was the most likely cause of these chromosomal alterations.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tayassu; Karyotype; Chromosome; Chromosomal alterations.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-95962004000100002
Registros recuperados: 6
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