- Thyroid Cancer Diagnosis and Treatment
- BRCA gene mutations in cancer
- Cancer-related Molecular Pathways
- Head and Neck Cancer Studies
- Radiomics and Machine Learning in Medical Imaging
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Thyroid Disorders and Treatments
- Cancer-related gene regulation
- Neuroendocrine Tumor Research Advances
- S100 Proteins and Annexins
- Epigenetics and DNA Methylation
- Cancer, Hypoxia, and Metabolism
- Neuroscience and Neuropharmacology Research
- Endoplasmic Reticulum Stress and Disease
- RNA and protein synthesis mechanisms
- Ginkgo biloba and Cashew Applications
- Head and Neck Anomalies
- Cancer-related molecular mechanisms research
- Glutathione Transferases and Polymorphisms
- Autophagy in Disease and Therapy
- Bone and Dental Protein Studies
- Ferroptosis and cancer prognosis
- Hedgehog Signaling Pathway Studies
Universidade Federal de São Paulo
2015-2024
Universidade Brasil
2015
Universidade de São Paulo
2000-2015
Fundação de Apoio à Universidade Federal de São Paulo
2014-2015
Ludwig-Maximilians-Universität München
2013
First Pavlov State Medical University of St. Petersburg
2013
Cook Children's Medical Center
2013
Emory University
2013
Universidade Estadual de Campinas (UNICAMP)
2000-2012
Laboratory of Molecular Genetics
2004-2008
Individualized management, incorporating papillary thyroid cancer (PTC) variant-specific risk, is conceivably a useful treatment strategy for PTC, which awaits comprehensive data demonstrating differential risks of PTC variants to support.This study sought establish the clinicopathological risk major variants: conventional (CPTC), follicular-variant (FVPTC), and tall-cell (TCPTC).This was retrospective outcomes 6282 patients (4799 females 1483 males) from 26 centers The Cancer Genome Atlas...
Accurate diagnosis of thyroid tumors is challenging. A particular problem distinguishing between follicular carcinoma (FTC) and benign adenoma (FTA), where histology fine-needle aspirates not conclusive. It often necessary to remove healthy rule out carcinoma. In order find markers improve diagnosis, we quantified gene transcript expression from FTC, FTA, normal thyroid, revealing 73 differentially expressed transcripts (P ≤ 0.0001). Using an independent set 23 FTCs, FTAs, matched thyroids,...
Open reading frame expressed sequences tags (ORESTES) differ from conventional ESTs by providing sequence data the central protein coding portion of transcripts. We generated a total 696,745 ORESTES 24 human tissues and used subset that correspond to set 15,095 full-length mRNAs as means assessing efficiency strategy its potential contribution definition transcriptome. estimate sampled over 80% all highly moderately expressed, between 40% 50% rarely genes. In our most thoroughly sequenced...
Abstract BACKGROUND: Although several studies undoubtedly demonstrated that BRAF mutation is an important genetic event in the pathogenesis of papillary thyroid carcinoma (PTC), its prognostic significance and correlation with less differentiated states remains unclear. It has been suggested discrepancy may be at least partially due to insufficient number cases analyzed, epidemiologic factors, a combination different variants PTC included these studies. METHODS: In this context, prevalence...
Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) pediatric patients compared with adults. have suggested that clinicopathological observed between adult PTCs may be due existence distinct genetic alterations. However, knowledge events is based primarily on radiation-exposed or few enrolled predominantly adolescent patients. The aim this study was to characterize known oncogenic alterations MAPK pathway found a...
Abstract Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly cysteine codon 10 or 11, whereas noncysteine codons 13–15 are rare. We now report a new missense point mutation exon 8 of gene (1597G→T) corresponding Gly533Cys substitution cystein-rich domain protein 76 patients from 6-generation Brazilian family with 229 subjects, ascendants Spain. It likely that causes familial (FMTC), because no other was found RET, cosegregates (MTC) C cell...
Abstract Hypokalemic Periodic Paralyses comprise diverse diseases characterized by acute and reversible attacks of severe muscle weakness, associated with low serum potassium. The most common causes are Familial Paralysis (FHypoKPP), an autosomal dominant disease, Thyrotoxic (THypoKPP), secondary to thyrotoxicosis. Symptoms paralysis similar in both diseases, distinguished thyrotoxicosis present THypoKPP. FHypoKPP is caused mutations ionic channel genes calcium (CACN1AS), sodium (SCN4A)...
Abstract Purpose: To identify papillary thyroid carcinoma (PTC)–associated transcripts, we compared the gene expression profiles of three Serial Analysis Gene Expression libraries generated from tumors and a normal tissue. Experimental Design: Selected transcripts were validated in panel 57 using quantitative PCR (qPCR). An independent set 71 paraffin-embedded sections was used for validation immunohistochemical analysis. determine if PTC-associated could predict lymph node involvement,...
Somatic mutations at residue R132 of isocitrate dehydrogenase 1 (IDH1) were recently discovered in gliomas and leukaemia a high frequency. IDH1 is metabolic gene, the create new enzymatic activity.To determine whether had somatically acquired thyroid carcinomas.Exons 4 6 sequenced large panel tumours (n=138) compared with patients normal DNA (n=26). We also correlated clinical-pathological data BRAF RAS mutational status.We identified four novel two previously described non-synonymous...
Thyroid cancer incidence has dramatically increased worldwide over the last two decades. The rise is mostly due to an detection of small papillary thyroid carcinomas (PTCs) (≤20 mm), predominantly microPTC (≤10 mm). Although tumors generally have excellent outcome, a considerable percentage may more aggressive disease and worse prognosis. clinical challenge preoperatively identify those that are likely recur.To improve risk stratification patient management, we sought determine prognostic...
PTC-specific analysis identified novel fusions involving RET, BRAF, NTRK1, NTRK3, AGK and ALK genes in adults pediatric PTCs. Although many are events and, therefore, ideal for diagnosis purposes, validation across additional larger patient cohorts is essential introducing these potential diagnostic or prognostic biomarkers into the clinical practice. As most of NTRK3 were initially found PTC more aggressive thyroid carcinomas, there a great disparity population, this study, we screened...
To investigate the molecular events involved in pathogenesis and/or progression of thyroid tumors, we compared gene expression profiles three carcinoma cell lines, which represent major tumor subtypes cancer and normal tissue. Using cDNA array methodology, investigated 1807 open reading frame expressed sequence tags (ORESTES), selected from head neck libraries generated through Brazilian Human Cancer Project-LICR/FAPESP. We found that 505 transcripts were differentially lines. a more...
Flavonoids, which have been identified in a variety of plants, demonstrated to elicit beneficial effects on memory. Some studies reported that flavonoids derived from Erythrina plants can provide such The aim this study was identify the present stem bark crude extract falcata (CE) and perform bioactivity-guided conditioned fear secondary metabolites CE were by high performance liquid chromatography combined with diode array detector, electrospray ionization tandem mass spectrometry...
Accurate interpretation of germline mutations the rearranged during transfection (RET) proto-oncogene is vital for proper recommendation preventive thyroidectomy in medullary thyroid carcinoma (MTC)-prone carriers. To gain information regarding most disputed variant RET, ATA-A Y791F, we sequenced blood DNA samples from a cohort 2904 cancer-free elderly individuals (1261 via Sanger sequencing and 1643 whole-exome/genome sequencing). We also accessed exome sequences an additional 8069...
Abstract Background The incidence of thyroid carcinoma has increased in most populations, including pediatric patients. increase is almost exclusively due to an the papillary (PTC). Genetic alterations leading mitogen‐activated protein kinase (MAPK) pathway activation are highly prevalent PTC, with BRAF V600E mutation being common event adult PTC. Although a lower prevalence had been reported among patients, higher fusion identified both radiation‐exposed and sporadic However, little known...
Transcribed sequences in the human genome can be identified with confidence only by alignment derived from cDNAs synthesized naturally occurring mRNAs. We constructed a set of 250,000 that represent partial expressed gene and are biased toward central coding regions resulting transcripts. They termed ORF sequence tags (ORESTES). The ORESTES were assembled into 81,429 contigs. Of these, 1,181 (1.45%) found to match chromosome 22 at least one contig for 162 (65.6%) 247 known genes, 67 (44.6%)...
Abstract A detailed genome mapping analysis of 213,636 expressed sequence tags (EST) derived from nontumor and tumor tissues the oral cavity, larynx, pharynx, thyroid was done. Transcripts matching known human genes were identified; potential new splice variants flagged subjected to manual curation, pointing 788 putatively alternative splicing isoforms, majority (75%) being insertion events. subset 34 isoforms (5% events) selected 23 (68%) confirmed by reverse transcription–PCR DNA...