Research Topics
Genomes and Genes
| Manuel R TeixeiraSummaryCountry: Portugal Publications
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Publications
POU1F1 is a novel fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15)Susana Lisboa
Department of Genetics, Portuguese Oncology Institute, Rua Dr, António Bernardino de Almeida, 4200 072, Porto, Portugal
Mol Cancer 12:5. 2013..abstract:..
High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancerJoana G Guedes
Departments of Genetics, Portuguese Oncology Institute, Porto, Portugal
BMC Cancer 13:169. 2013....
Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility lociMarianne Berg
Department of Cancer Prevention, Institute for Cancer Research, Oslo University Hospital, Norwegian Radium Hospital, Oslo, Norway
Mol Cancer 9:100. 2010..Integration analysis of CNV and genome wide mRNA expression data, available for the same tumors, was performed to identify a restricted candidate gene list...
Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patientsJoana Savva-Bordalo
Department of Medical Oncology, Portuguese Oncology Institute Porto, Portugal
BMC Cancer 10:470. 2010..Severe toxicity to 5-fluorouracil (5-FU) based chemotherapy in gastrointestinal cancer has been associated with constitutional genetic alterations of the dihydropyrimidine dehydrogenase gene (DPYD)...
Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsiesJoana Vieira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genes Chromosomes Cancer 49:935-47. 2010..2%, respectively. The positive predictive value and specificity of copy number profiles was 100%. We demonstrate that genetic diagnosis by CGH on FNA biopsies can improve differential diagnosis in patients with kidney tumors...
Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumorsMara Silva
Department of Genetics, Portuguese Oncology Institute Porto, Rua Dr, António Bernardino Almeida, 4200 072 Porto, Portugal
BMC Med 8:26. 2010..The relative contribution of such alterations for the biology and clinical behavior of GIST, however, remains elusive...
Overexpression of the mitotic checkpoint genes BUB1 and BUBR1 is associated with genomic complexity in clear cell kidney carcinomasMafalda Pinto
Department of Genetics, Portuguese Oncology Institute, 4200 072 Porto, Portugal
Cell Oncol 30:389-95. 2008....
FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancerPaula Paulo
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genes Chromosomes Cancer 51:240-9. 2012..015). We report that FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancer and that intratumor genetic heterogeneity of ETS rearrangements can occasionally be found in index primary tumors...
CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomasMaria J Soares
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Mod Pathol 22:744-52. 2009..Our data allow us to conclude that CSF1R plays a relevant role in clear cell renal cell carcinoma carcinogenesis and raise the possibility that CSF1R may represent a future valuable therapeutic target in these patients...
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome familiesManuela Pinheiro
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genet Med 13:895-902. 2011..Although Lynch syndrome is characterized by marked genetic heterogeneity, some specific mutations are observed at high frequency in well-defined populations or ethnic groups due to founder effects...
Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of originManuela Pinheiro
Department of Genetics, Portuguese Oncology Institute Porto, Rua Dr, António Bernardino Almeida, 4200 072 Porto, Portugal
BMC Cancer 10:587. 2010..We aimed to identify potential differences among genetic alterations in distal colon and rectal carcinomas as compared to cancers arising elsewhere in the large bowel...
Expression pattern of the septin gene family in acute myeloid leukemias with and without MLL-SEPT fusion genesJoana Santos
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Leuk Res 34:615-21. 2010....
Quantitative promoter methylation analysis of multiple cancer-related genes in renal cell tumorsVera L Costa
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
BMC Cancer 7:133. 2007..In this study we aimed at defining a quantitative gene promoter methylation panel that might identify the most prevalent types of renal cell tumors...
Quantitative hypermethylation of a small panel of genes augments the diagnostic accuracy in fine-needle aspirate washings of breast lesionsCarmen Jeronimo
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino Almeida, Porto, Portugal
Breast Cancer Res Treat 109:27-34. 2008..We hypothesized that comprehensive breast cancer methylation profiling might provide biomarkers for diagnostic assessment of suspicious breast lesions using fine needle aspiration biopsy (FNA)...
Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25)Joana Santos
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, Porto, Portugal
Cancer Genet Cytogenet 197:60-4. 2010..This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias...
Epigenetic regulation of Wnt signaling pathway in urological cancerVera L Costa
Cancer Epigenetics Group, Research Center of the Portuguese Oncology Institute at Porto, Porto, Portugal
Epigenetics 5:343-51. 2010..We concluded that epigenetic deregulation of Wnt pathway inhibitors may contribute to aberrant activation of Wnt signaling pathway in bladder, prostate and renal tumors...
Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcomaNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Cancer Genet Cytogenet 163:138-43. 2005..Furthermore, our findings and previous studies indicate that there are no apparent genetic differences between solid variant and typical ARMS...
Cysteine-rich secretory protein-3 (CRISP3) is strongly up-regulated in prostate carcinomas with the TMPRSS2-ERG fusion geneFranclim R Ribeiro
Department of Genetics, Portuguese Oncology Institute Porto, Porto, Portugal
PLoS ONE 6:e22317. 2011..In particular, we show that CRISP3 is a direct target of ERG that is strongly overexpressed in PCa with the TMPRSS2-ERG fusion gene...
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutationAna Peixoto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, Porto 4200 072, Portugal
Breast Cancer Res Treat 127:671-9. 2011..We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement...
Genetic and clinical characterization of 45 acute leukemia patients with MLL gene rearrangements from a single institutionNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Mol Oncol 6:553-64. 2012....
Relative copy number gain of MYC in diagnostic needle biopsies is an independent prognostic factor for prostate cancer patientsFranclim R Ribeiro
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Eur Urol 52:116-25. 2007..Because CGH may be difficult to implement in the clinical practice, we tested the feasibility of using a three-color fluorescent assay to assess 8q status in diagnostic, paraffin-embedded biopsy samples from prostate cancer patients...
Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemiaSusana Bizarro
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Cancer Genet Cytogenet 178:61-4. 2007..In summary, we have characterized at both the RNA and the DNA level a rare MLL-AF4 fusion variant that was presumably mediated by Alu repeats or polypurine and polypyrimidine tracts located in the vicinity of genomic breakpoints...
A novel spliced fusion of MLL with CT45A2 in a pediatric biphenotypic acute leukemiaNuno Cerveira
Department of Genetics of the Portuguese Oncology Institute, Porto, Portugal
BMC Cancer 10:518. 2010..In this work we present the identification of a novel MLL fusion partner in a pediatric patient with de novo biphenotypic acute leukemia...
Relative 8q gain predicts disease-specific survival irrespective of the TMPRSS2-ERG fusion status in diagnostic biopsies of prostate cancerJoão D Barros-Silva
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genes Chromosomes Cancer 50:662-71. 2011..We conclude that relative 8q gain in diagnostic needle biopsies is a poor prognostic factor independent of the TMPRSS2-ERG fusion gene status and of standard clinicopathological parameters...
Detailed analysis of expression and promoter methylation status of apoptosis-related genes in prostate cancerJoão R Carvalho
Portuguese Oncology Institute, Porto, Portugal
Apoptosis 15:956-65. 2010..In addition, BCL2 was also found to be frequently silenced in PCa due to aberrant promoter methylation, thus supporting a future role for apoptosis-targeted therapy in prostate cancer...
Cryptic chromosome rearrangement resulting in SYT-SSX2 fusion gene in a monophasic synovial sarcomaLurdes Torres
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Cancer Genet Cytogenet 187:45-9. 2008..We uncovered a complex cryptic rearrangement that gives rise to the characteristic SYT-SSX2 fusion gene in a monophasic synovial sarcoma...
TCF21 and PCDH17 methylation: An innovative panel of biomarkers for a simultaneous detection of urological cancersVera L Costa
Cancer Epigenetics Group, Research Center of the Portuguese Oncology Institute, Porto, Portugal
Epigenetics 6:1120-30. 2011..However, additional efforts are required to increase the assay's sensitivity, enabling the simultaneous non-invasive screening of urological tumors in a single voided urine analysis...
TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired HGPIN lesionsNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Neoplasia 8:826-32. 2006....
Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion geneLurdes Torres
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Pediatr Blood Cancer 56:846-9. 2011..The RBM15-MKL1 fusion transcript was detected by RT-PCR and confirmed by sequencing analyses. FISH analyses revealed the presence of the four-way translocation t(1;22;17;18)(p13;q13;q22;q12)...
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onsetCarla Pinto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Fam Cancer 8:383-90. 2009..A negative correlation between telomere length and age of cancer onset was found in patients with germline TP53 mutation, whereas no such correlation was found in controls or in patients with wild-type TP53...
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central PortugalAna Peixoto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072, Porto, Portugal
Breast Cancer Res Treat 114:31-8. 2009....
Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancerPedro Pinto
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Cancer Genet 204:439-46. 2011..0139), high resolution melting (P=0.0004), and SNaPshot (P=0.00001), but no statistically significant differences were found among the three methodologies with higher sensitivity...
Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumorSusana Lisboa
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Pediatr Blood Cancer 51:554-7. 2008..These data show a case of ARMS with no evidence of primary tumor presenting the PAX7-FOXO1 fusion gene...
Mitochondrial genome alterations in rectal and sigmoid carcinomasManuela Pinheiro
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Cancer Lett 280:38-43. 2009..In conclusion, mitochondrial genome alterations are common in both rectal and sigmoid carcinomas and may contribute to their pathogenesis...
Molecular subtyping of primary prostate cancer reveals specific and shared target genes of different ETS rearrangementsPaula Paulo
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Neoplasia 14:600-11. 2012....
Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician originCatarina Santos
Department of Genetics, Portuguese Oncology Institute, 4200 072 Porto, Portugal
Fam Cancer 8:203-8. 2009..Furthermore, our findings indicate a common ancestry of the Portuguese and Galician families sharing this mutation...
Both SEPT2 and MLL are down-regulated in MLL-SEPT2 therapy-related myeloid neoplasiaNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
BMC Cancer 9:147. 2009....
EGFR exon mutation distribution and outcome in non-small-cell lung cancer: a Portuguese retrospective studyRamon Andrade de Mello
Department of Medical Oncology, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 079 Porto, Portugal
Tumour Biol 33:2061-8. 2012..5 months (2-70) (exon 21) (p = n.a). This study suggests that the EGFR mutation is herein observed in a higher proportion than expected for a Caucasian population, and OS is a little less than that published in the literature...
Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical chromosome changesMafalda Pinto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072, Porto, Portugal
Virchows Arch 450:379-85. 2007..We conclude that expression changes in mitotic arrest deficiency genes (MAD1, MAD2L1, and MAD2L2) play a role in renal carcinogenesis characterized by multiple numerical chromosome abnormalities...
Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypesBárbara Mesquita
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Breast Cancer Res Treat 138:37-45. 2013....
Potential downstream target genes of aberrant ETS transcription factors are differentially affected in Ewing's sarcoma and prostate carcinomaMaria J Camões
Department of Genetics, Portuguese Oncology Institute Porto, Porto, Portugal
PLoS ONE 7:e49819. 2012..We conclude that aberrant ETS transcription factors modulate target genes differently in ESFT and PCa...
Statistical dissection of genetic pathways involved in prostate carcinogenesisFranclim R Ribeiro
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genes Chromosomes Cancer 45:154-63. 2006..We conclude that significant differences exist in the genetic profile of organ-confined, locally invasive, and advanced prostate cancer and that genetic features may carry prognostic information independently of Gleason grade...
Comparison of chromosomal and array-based comparative genomic hybridization for the detection of genomic imbalances in primary prostate carcinomasFranclim R Ribeiro
Department of Genetics, Portuguese Oncology Institute Porto, Portugal
Mol Cancer 5:33. 2006....
Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathwaysIsabel Veiga
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genes Chromosomes Cancer 49:91-8. 2010....
MT1G hypermethylation is associated with higher tumor stage in prostate cancerRui Henrique
Department of Genetics, Portuguese Oncology Institute, Porto, Rua Dr. Antonio Bernardino Almeida, 4200-072 Porto, Portugal
Cancer Epidemiol Biomarkers Prev 14:1274-8. 2005..CONCLUSIONS: Our findings suggest that MT1G promoter methylation is associated with tumor aggressiveness in prostate cancer and it might be a marker of locally advanced disease...
Intratumor genomic heterogeneity in breast cancer with clonal divergence between primary carcinomas and lymph node metastasesLurdes Torres
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, Porto, Portugal
Breast Cancer Res Treat 102:143-55. 2007....
No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatinBárbara Mesquita
Department of Genetics, Portuguese Oncology Institute, 4200 072 Porto, Portugal
BMC Cancer 5:101. 2005..Our goals were to investigate whether TUBB mutations and mismatch repair defects underlie paclitaxel and cisplatin resistance...
Three epigenetic biomarkers, GDF15, TMEFF2, and VIM, accurately predict bladder cancer from DNA-based analyses of urine samplesVera L Costa
Cancer Epigenetics Group, Portuguese Oncology Institute Porto, Porto, Portugal
Clin Cancer Res 16:5842-51. 2010..To identify a panel of epigenetic biomarkers for accurate bladder cancer (BlCa) detection in urine sediments...
Highly sensitive detection of the MGB1 transcript (mammaglobin) in the peripheral blood of breast cancer patientsNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Int J Cancer 108:592-5. 2004....
Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: identification of novel fusion transcripts and cloning of genomic breakpoint junctionsNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Haematologica 93:1076-80. 2008..These data suggest that a non-homologous end-joining repair mechanism may be involved in the generation of MLL-SEPT6 rearrangements in acute myeloid leukemia...
Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 geneAna Peixoto
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, Porto, Portugal
J Hum Genet 58:78-83. 2013..To conclude, we describe the breakpoints of two novel large deletions involving the BRCA1 gene and analysis of their genomic context allowed us to gain insight about the respective mutational mechanism...
Desmoplastic small round cell tumor: diagnosis by fine-needle aspiration cytologyLuís B Leça
Department of Pathology, Portuguese Oncology Institute of Porto, Porto, Portugal
Acta Cytol 56:576-80. 2012..This tumor is characterized by a typical polyphenotypic profile with expression of epithelial, mesenchymal and neural markers. Cytogenetically, this tumor presents a unique abnormality - t(11;22)(p13;q12)...
Adenomas and follicular carcinomas of the thyroid display two major patterns of chromosomal changesPatricia Castro
Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
J Pathol 206:305-11. 2005....
Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patientsNatália Salgueiro
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Genet Med 6:102-7. 2004..Genetic analysis of the gene coding for dihydropyrimidine dehydrogenase has shown that mutations in exon 14, especially the splice-site mutation IVS14+1G-->A, were associated with dihydropyrimidine dehydrogenase enzymatic deficiency...
Structural and expression changes of septins in myeloid neoplasiaNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Crit Rev Oncog 15:91-115. 2009....
Cytogenetic analysis of tumor clonalityManuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Adv Cancer Res 112:127-49. 2011....
Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrationsJoão Ramalho-Carvalho
Cancer Epigenetics Group, Research Center of the Portuguese Oncology Institute Porto, Porto, Portugal
PLoS ONE 8:e58206. 2013..Hence, evaluation of copy number alterations might add relevant prognostic and predictive information concerning response to alkylating agent-based chemotherapy...
Detection of gene promoter hypermethylation in fine needle washings from breast lesionsCarmen Jeronimo
Department of Genetics, Portuguese Oncology Institute Porto, 4200 072 Porto, Portugal
Clin Cancer Res 9:3413-7. 2003....
MLL-SEPTIN gene fusions in hematological malignanciesNuno Cerveira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Biol Chem 392:713-24. 2011....
Genomic analysis of prostate carcinoma specimens obtained via ultrasound-guided needle biopsy may be of use in preoperative decision-makingManuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
Cancer 101:1786-93. 2004....
Multiple numerical chromosome aberrations in cancer: what are their causes and what are their consequences?Manuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Semin Cancer Biol 15:3-12. 2005....
Variability of the paracrine-induced osteoclastogenesis by human breast cancer cell linesJoão Costa-Rodrigues
Laboratório de Farmacologia e Biocompatibilidade Celular, Faculdade de Medicina Dentaria, Universidade do Porto, Porto, Portugal
J Cell Biochem 113:1069-79. 2012....
Endometrial endometrioid adenocarcinoma associated with primitive neuroectodermal tumour of the uterus: a poor prognostic subtype of uterine tumoursCarla Bartosch
Department of Pathology, Hospital de S Joao, E P E, and Department of Pathology, Medical Faculty, University of Porto, Alameda Professor Hernani Monteiro, 4202 451, Porto, Portugal
Med Oncol 28:1488-94. 2011....
Recurrent fusion oncogenes in carcinomasManuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072 Porto, Portugal
Crit Rev Oncog 12:257-71. 2006....
Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1Manuel R Teixeira
Department of Genetics, Portuguese Oncology Institute, Rua Dr Antonio Bernardino de Almeida, 4200 072, Porto, Portugal
Cancer Genet Cytogenet 145:121-5. 2003..We conclude that both clonal divergence and convergence may be operative during tumor progression of CCS...
