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  1 / 2499 MEDLINE  
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[PMID]:29237421
[Au] Autor:Yeh YS; Chang YT; Ma CJ; Huang CW; Tsai HL; Chen YT; Wang JY
[Ad] Endereço:Division of Trauma and Surgical Critical Care, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
[Ti] Título:First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene.
[So] Source:BMC Cancer;17(1):849, 2017 12 14.
[Is] ISSN:1471-2407
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Colorectal carcinoma (CRC) is one of the most common causes of cancer-related deaths. The mean age of patients with CRC ranges from 49 to 60 years. Pediatric CRC is unusual, which often escapes early diagnosis because of a lack of awareness of its occurrence in children. The association between the mutation of APC and the occurrence of CRC in the first decade of life remains unknown. CASE PRESENTATION: We report a 10-year-old child with CRC; he was diagnosed with stage IIIB advanced transverse colon cancer without distal metastases. We detected a heterozygous germline mutation at c.5465 T > A in both blood and tissue samples and a heterozygous somatic mutation at c.7397C > T in the tissue sample. Both of these mutations can cause CRC tumorigenesis in the first decade of life. CONCLUSIONS: The rare genetic features of this 10-year-old patient might be the predisposing cause of pediatric CRC. Therefore, screening patients with early-onset CRC through clinical and genetic characterizations is suggested.
[Mh] Termos MeSH primário: Neoplasias Colorretais/genética
Genes APC
Mutação/genética
[Mh] Termos MeSH secundário: Criança
Mutação em Linhagem Germinativa
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE
[do] DOI:10.1186/s12885-017-3878-0


  2 / 2499 MEDLINE  
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[PMID]:29215473
[Au] Autor:Kallenberg FGJ; Latchford A; Lips NC; Aalfs CM; Bastiaansen BAJ; Clark SK; Dekker E
[Ad] Endereço:Department of Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
[Ti] Título:Duodenal Adenomas in Patients With Multiple Colorectal Adenomas Without Germline APC or MUTYH Mutations.
[So] Source:Dis Colon Rectum;61(1):58-66, 2018 Jan.
[Is] ISSN:1530-0358
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with genetic adenomatous polyposis syndromes have an increased risk for duodenal cancer, and clear surveillance recommendations exist for this group. However, limited data are available on the duodenal phenotype of patients with multiple colorectal adenomas (10-99) without a germline APC or MUTYH mutation. OBJECTIVE: We aimed to assess the frequency, extent, and progression of duodenal adenomas in patients with multiple colorectal adenomas without a germline APC or MUTYH mutation. DESIGN: This was an historical cohort study. SETTINGS: This study was undertaken at 2 polyposis registries: the Academic Medical Center in the Netherlands, and St. Mark's Hospital in the United Kingdom. PATIENTS: We collected data on all patients with 10 to 99 colorectal adenomas and absent APC and MUTYH mutations, who underwent ≥1 esophagogastroduodenoscopy. MAIN OUTCOME MEASURES: The frequency, extent, and progression of duodenal adenomas were measured. Demographic and endoscopic data were collected, described, and compared between patients with and without duodenal adenomas. RESULTS: Eighty-three patients were identified, of which 8 (9.6%) had duodenal adenomas, detected at a median of 58 years (range, 45-75 y). Duodenal adenomas were detected in 6 of 8 patients at first esophagogastroduodenoscopy. At diagnosis, all 8 patients had Spigelman stage I or II disease. Two of 5 patients with duodenal adenomas who underwent follow-up esophagogastroduodenoscopies increased to stage III disease. The other 3 remained stable. No one developed duodenal cancer. No differences in demographic and endoscopic data were found between patients with and without duodenal adenomas. LIMITATIONS: This study was limited by its retrospective design, selection bias, and small sample size. CONCLUSIONS: Duodenal adenomas are found in a minority of patients with multiple colorectal adenomas without a germline APC or MUTYH mutation, at an average age of 58 years, and, at diagnosis, disease severity is mild. These results are a first step in unraveling the duodenal phenotype of these patients, which is needed to provide appropriate upper GI screening and surveillance recommendations. See Video Abstract at http://links.lww.com/DCR/A357.
[Mh] Termos MeSH primário: Polipose Adenomatosa do Colo/genética
DNA Glicosilases/genética
Neoplasias Duodenais/genética
Genes APC/fisiologia
[Mh] Termos MeSH secundário: Adenoma/epidemiologia
Adenoma/genética
Polipose Adenomatosa do Colo/epidemiologia
Idoso
Neoplasias Duodenais/epidemiologia
Feminino
Mutação em Linhagem Germinativa
Seres Humanos
Masculino
Meia-Idade
Países Baixos/epidemiologia
Sistema de Registros
Estudos Retrospectivos
Reino Unido/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
EC 3.2.2.- (DNA Glycosylases); EC 3.2.2.- (mutY adenine glycosylase)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171215
[Lr] Data última revisão:
171215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.1097/DCR.0000000000000868


  3 / 2499 MEDLINE  
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[PMID]:28668823
[Au] Autor:DE Marchis ML; Tonelli F; Quaresmini D; Lovero D; Della-Morte D; Silvestris F; Guadagni F; Palmirotta R
[Ad] Endereço:Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy.
[Ti] Título:Desmoid Tumors in Familial Adenomatous Polyposis.
[So] Source:Anticancer Res;37(7):3357-3366, 2017 07.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation. Among associated lesions in FAP, desmoid tumors represent a common possible life-threatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery. In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids. Several lines of evidence show that germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with ß-catenin, whereas somatic second mutations involve the downstream region of the gene. Hence, an understanding of the molecular pathways underlying desmoid progression in FAP could be important for research and a valid resource for the early prevention and tailored treatment of this disease. In this review, we provide an updated insight into desmoids in FAP syndrome, from molecular pathogenesis to the main issues in management, with special attention given to genetic and molecular features of these tumors.
[Mh] Termos MeSH primário: Polipose Adenomatosa do Colo/patologia
Fibromatose Agressiva/patologia
Neoplasias/patologia
[Mh] Termos MeSH secundário: Polipose Adenomatosa do Colo/genética
Animais
Fibromatose Agressiva/genética
Genes APC/fisiologia
Mutação em Linhagem Germinativa/genética
Seres Humanos
Incidência
Neoplasias/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170703
[St] Status:MEDLINE


  4 / 2499 MEDLINE  
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[PMID]:28531315
[Au] Autor:Poulos RC; Olivier J; Wong JWH
[Ad] Endereço:Prince of Wales Clinical School and Lowy Cancer Research Centre, UNSW Sydney, NSW 2052, Australia.
[Ti] Título:The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes.
[So] Source:Nucleic Acids Res;45(13):7786-7795, 2017 Jul 27.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Methylated cytosines (5mCs) are frequently mutated in the genome. However, no studies have yet comprehensively analysed mutation-methylation associations across cancer types. Here we analyse 916 cancer genomes, together with tissue type-specific methylation and replication timing data. We describe a strong mutation-methylation association across colorectal cancer subtypes, most interestingly in samples with microsatellite instability (MSI) or Polymerase epsilon (POLE) exonuclease domain mutations. By analysing genomic regions with differential mismatch repair (MMR) efficiency, we suggest a possible role for MMR in the correction of 5mC deamination events, potentially accounting for the high rate of 5mC mutation accumulation in MSI tumours. Additionally, we propose that mutant POLE asserts a mutator phenotype specifically at 5mCs, and we find coding mutation hotspots in POLE-mutant cancers at highly-methylated CpGs in the tumour-suppressor genes APC and TP53. Finally, using multivariable regression models, we demonstrate that different cancers exhibit distinct mutation-methylation associations, with DNA repair influencing such associations in certain cancer genomes. Taken together, we find differential associations with methylation that are vital for accurately predicting expected mutation loads across cancer types. Our findings reveal links between methylation and common mutation and repair processes, with these mechanisms defining a key part of the mutational landscape of cancer genomes.
[Mh] Termos MeSH primário: Metilação de DNA/genética
Replicação do DNA/genética
Genes Neoplásicos
Mutação
Neoplasias/genética
Neoplasias/metabolismo
[Mh] Termos MeSH secundário: 5-Metilcitosina/metabolismo
Neoplasias Colorretais/genética
Neoplasias Colorretais/metabolismo
Ilhas de CpG
Reparo de Erro de Pareamento de DNA
DNA Polimerase II/genética
DNA Polimerase II/metabolismo
Reparo do DNA
Genes APC
Genes p53
Genoma Humano
Seres Humanos
Instabilidade de Microssatélites
Proteínas de Ligação a Poli-ADP-Ribose
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Poly-ADP-Ribose Binding Proteins); 6R795CQT4H (5-Methylcytosine); EC 2.7.7.- (DNA Polymerase II); EC 2.7.7.7 (POLE protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170523
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx463


  5 / 2499 MEDLINE  
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[PMID]:28437001
[Au] Autor:Meinicke H; Bremser A; Brack M; Akeus P; Pearson C; Bullers S; Hoffmeyer K; Stemmler MP; Quiding-Järbrink M; Izcue A
[Ad] Endereço:Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.
[Ti] Título:Tumour-associated changes in intestinal epithelial cells cause local accumulation of KLRG1 GATA3 regulatory T cells in mice.
[So] Source:Immunology;152(1):74-88, 2017 Sep.
[Is] ISSN:1365-2567
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:CD4 Foxp3 regulatory T (Treg) cells include differentiated populations of effector Treg cells characterized by the expression of specific transcription factors. Tumours, including intestinal malignancies, often present with local accumulation of Treg cells that can prevent tumour clearance, but how tumour progression leads to Treg cell accumulation is incompletely understood. Here using genetically modified mouse models we show that ablation of E-cadherin, a process associated with epithelial to mesenchymal transition and tumour progression, promotes the accumulation of intestinal Treg cells by the specific accumulation of the KLRG1 GATA3 Treg subset. Epithelial E-cadherin ablation activates the ß-catenin pathway, and we find that increasing ß-catenin signals in intestinal epithelial cells also boosts Treg cell frequencies through local accumulation of KLRG1 GATA3 Treg cells. Both E-cadherin ablation and increased ß-catenin signals resulted in epithelial cells with higher levels of interleukin-33, a cytokine that preferentially expands KLRG1 GATA3 Treg cells. Tumours often present reduced E-cadherin expression and increased ß-catenin signalling and interleukin-33 production. Accordingly, Treg cell accumulation in intestinal tumours from APC mice was exclusively due to the increase in KLRG1 GATA3 Treg cells. Our data identify a novel axis through which epithelial cells control local Treg cell subsets, which may be activated during intestinal tumorigenesis.
[Mh] Termos MeSH primário: Células Epiteliais/imunologia
Fator de Transcrição GATA3/imunologia
Mucosa Intestinal/imunologia
Neoplasias Intestinais/imunologia
Linfócitos do Interstício Tumoral/imunologia
Receptores Imunológicos/imunologia
Linfócitos T Reguladores/imunologia
[Mh] Termos MeSH secundário: Animais
Caderinas/imunologia
Caderinas/metabolismo
Proteínas Cdh1/genética
Proteínas Cdh1/imunologia
Proteínas Cdh1/metabolismo
Células Cultivadas
Quimiotaxia de Leucócito
Células Epiteliais/metabolismo
Células Epiteliais/patologia
Fatores de Transcrição Forkhead/imunologia
Fatores de Transcrição Forkhead/metabolismo
Fator de Transcrição GATA3/metabolismo
Genes APC
Predisposição Genética para Doença
Interleucina-33/imunologia
Interleucina-33/metabolismo
Mucosa Intestinal/metabolismo
Mucosa Intestinal/patologia
Neoplasias Intestinais/genética
Neoplasias Intestinais/metabolismo
Neoplasias Intestinais/patologia
Linfócitos do Interstício Tumoral/metabolismo
Linfócitos do Interstício Tumoral/patologia
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Fenótipo
Receptores Imunológicos/metabolismo
Transdução de Sinais
Linfócitos T Reguladores/metabolismo
Linfócitos T Reguladores/patologia
beta Catenina/genética
beta Catenina/imunologia
beta Catenina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CTNNB1 protein, mouse); 0 (Cadherins); 0 (Cdh1 Proteins); 0 (Cdh2 protein, mouse); 0 (Forkhead Transcription Factors); 0 (Foxp3 protein, mouse); 0 (Fzr1 protein, mouse); 0 (GATA3 Transcription Factor); 0 (Gata3 protein, mouse); 0 (Il33 protein, mouse); 0 (Interleukin-33); 0 (Klrg1 protein, mouse); 0 (Receptors, Immunologic); 0 (beta Catenin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170425
[St] Status:MEDLINE
[do] DOI:10.1111/imm.12750


  6 / 2499 MEDLINE  
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[PMID]:28423518
[Au] Autor:Wang D; Liang S; Zhang Z; Zhao G; Hu Y; Liang S; Zhang X; Banerjee S
[Ad] Endereço:Department of Pathology, Tianjin Medical University General Hospital, Tianjin 300052, China.
[Ti] Título:A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.
[So] Source:Oncotarget;8(13):21327-21335, 2017 Mar 28.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition, clinically characterized by the presence of multiple colorectal adenomas or polyps. Patients with FAP has a high risk of developing colorectal cancer (CRC) from these colorectal adenomatous polyps by the mean age of diagnosis at 40 years. Germline mutations of the APC gene cause familial adenomatous polyposis (FAP). Colectomy has recommended for the FAP patients with significant polyposis. Here, we present a clinical molecular study of a four generation Chinese family with FAP. Clinical diagnosis of FAP has been done according to the phenotype, family history and medical records. Patient's blood samples were collected and genomic DNA was extracted. In order to identify the pathogenic mutation underlying the disease phenotype targeted next-generation sequencing and confirmatory sanger sequencing has undertaken. Targeted next generation sequencing identified a novel heterozygous splice-acceptor site mutation [c.1744-1G>A] in intron 14 of APC gene, which is co-segregated with the FAP phenotypes in the proband and amongst all the affected family members. This mutation is not present in unaffected family members and in normal healthy controls of same ethnic origin. According to the LOVD database for Chinese colorectal cancer patients, in Chinese population, 60% of the previously reported APC gene mutations causes FAP, are missense mutations. This novel splice-acceptor site mutation causing FAP in this Chinese family expands the germline mutation spectrum of the APC gene in the Chinese population.
[Mh] Termos MeSH primário: Polipose Adenomatosa do Colo/genética
Genes APC
[Mh] Termos MeSH secundário: Proteína da Polipose Adenomatosa do Colo/genética
Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Grupo com Ancestrais do Continente Asiático/genética
Pré-Escolar
Análise Mutacional de DNA
Feminino
Mutação em Linhagem Germinativa
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Íntrons
Masculino
Meia-Idade
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adenomatous Polyposis Coli Protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.15570


  7 / 2499 MEDLINE  
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[PMID]:28363996
[Au] Autor:Jiang L; Hermeking H
[Ad] Endereço:Experimental and Molecular Pathology, Institute of Pathology, Ludwig-Maximilians-University, München, Germany.
[Ti] Título: and Suppress Intestinal Tumorigenesis.
[So] Source:Cancer Res;77(10):2746-2758, 2017 May 15.
[Is] ISSN:1538-7445
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The p53-inducible and genes are frequently silenced in colorectal cancer. To address the relevance of function for suppression of intestinal tumor formation, we generated mice with deletions of the and/or genes separately or in combination. Combined deletion of increased the number of intestinal stem cells as well as Paneth and Goblet cells, resulting in enlarged intestinal crypts. -deficient mice displayed an increased tumor burden and grade and decreased survival. -deficient adenomas showed elevated proliferation and decreased apoptosis and displayed pronounced bacterial infiltration, which may be due to an observed decrease in infiltrating immune cells and downregulation of barrier proteins. mRNA induction in -deficient tumors was enriched for miR-34a/b/c seed-matching sites and for mRNAs encoding proteins related to epithelial-mesenchymal transition, stemness, and Wnt signaling. Accordingly, cells explanted from -deficient adenomas formed tumor organoids at an increased rate. Several upregulated miR-34 targets displayed elevated expression in primary human colorectal cancers that was associated with lymph-node metastases ( and ) and upregulation of and in primary colorectal cancer was associated with poor patient survival. In conclusion, our results show that suppress tumor formation caused by loss of and control intestinal stem cell and secretory cell homeostasis by downregulation of multiple target mRNAs. .
[Mh] Termos MeSH primário: Transformação Celular Neoplásica/genética
Neoplasias Intestinais/genética
MicroRNAs/genética
[Mh] Termos MeSH secundário: Animais
Apoptose/genética
Linhagem Celular Tumoral
Proliferação Celular
Análise por Conglomerados
Modelos Animais de Doenças
Feminino
Perfilação da Expressão Gênica
Regulação Neoplásica da Expressão Gênica
Genes APC
Mucosa Intestinal/metabolismo
Mucosa Intestinal/patologia
Neoplasias Intestinais/metabolismo
Neoplasias Intestinais/mortalidade
Neoplasias Intestinais/patologia
Masculino
Camundongos
Camundongos Knockout
Modelos Biológicos
Prognóstico
Interferência de RNA
Reprodutibilidade dos Testes
Via de Sinalização Wnt
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MIRN34 microRNA, mouse); 0 (MicroRNAs)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170402
[St] Status:MEDLINE
[do] DOI:10.1158/0008-5472.CAN-16-2183


  8 / 2499 MEDLINE  
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[PMID]:28348148
[Au] Autor:Stoddart A; Wang J; Hu C; Fernald AA; Davis EM; Cheng JX; Le Beau MM
[Ad] Endereço:Department of Medicine and.
[Ti] Título:Inhibition of WNT signaling in the bone marrow niche prevents the development of MDS in the MDS mouse model.
[So] Source:Blood;129(22):2959-2970, 2017 Jun 01.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:There is accumulating evidence that functional alteration(s) of the bone marrow (BM) microenvironment contribute to the development of some myeloid disorders, such as myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In addition to a cell-intrinsic role of WNT activation in leukemia stem cells, WNT activation in the BM niche is also thought to contribute to the pathogenesis of MDS and AML. We previously showed that the -haploinsufficient mice ( ) model MDS induced by an aberrant BM microenvironment. We sought to determine whether Apc, a multifunctional protein and key negative regulator of the canonical ß-catenin (Ctnnb1)/WNT-signaling pathway, mediates this disease through modulating WNT signaling, and whether inhibition of WNT signaling prevents the development of MDS in mice. Here, we demonstrate that loss of 1 copy of is sufficient to prevent the development of MDS in mice and that altered canonical WNT signaling in the microenvironment is responsible for the disease. Furthermore, the US Food and Drug Administration (FDA)-approved drug pyrvinium delays and/or inhibits disease in mice, even when it is administered after the presentation of anemia. Other groups have observed increased nuclear CTNNB1 in stromal cells from a high frequency of MDS/AML patients, a finding that together with our results highlights a potential new strategy for treating some myeloid disorders.
[Mh] Termos MeSH primário: Genes APC
Síndromes Mielodisplásicas/genética
Síndromes Mielodisplásicas/prevenção & controle
Nicho de Células-Tronco/genética
Via de Sinalização Wnt
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Haploinsuficiência
Seres Humanos
Células Mesenquimais Estromais/efeitos dos fármacos
Células Mesenquimais Estromais/metabolismo
Células Mesenquimais Estromais/patologia
Camundongos
Camundongos da Linhagem 129
Camundongos Endogâmicos C57BL
Camundongos Knockout
Síndromes Mielodisplásicas/patologia
Compostos de Pirvínio/farmacologia
Via de Sinalização Wnt/genética
beta Catenina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CTNNB1 protein, mouse); 0 (Pyrvinium Compounds); 0 (beta Catenin); 6B9991FLU3 (pyrvinium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2016-08-736454


  9 / 2499 MEDLINE  
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[PMID]:28306719
[Au] Autor:Thean LF; Wong YH; Lo M; Loi C; Chew MH; Tang CL; Cheah PY
[Ad] Endereço:Department of Colorectal Surgery, Singapore General Hospital, Singapore.
[Ti] Título:Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.
[So] Source:PLoS One;12(3):e0173772, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative familial CRC patients, enabling us to search for novel genes. We performed genome-wide scan on two affected siblings of one family and 88 ethnicity- and gender-matched healthy controls to identify deletions shared by the siblings. Combined loss of heterozygosity, copy number and allelic-specific copy number analysis uncovered 5 shared deletions. Long-range polymerase chain reaction (PCR) confirmed chromosome 19q13 deletion, which was subsequently found in one other family. The 32 kb deleted region harbors the CYP2A7 gene and was enriched with enhancer, repressor and insulator sites. The wildtype allele was lost in the polyps of the proband. Further, real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3'UTRs. PIM2 and TAOK1, two target oncogenes of miR-24, were co-ordinately up-regulated with MIA-RAB4B in the polyps, suggesting that MIA-RAB4B could function as competitive endogenous RNA to titrate miR-24 away from its other targets. The data suggest that the 19.13 deletion disrupted chromatin boundary, leading to altered expression of several genes and lncRNA, could contribute to colorectal cancer via novel genetic and epigenetic mechanisms.
[Mh] Termos MeSH primário: Polipose Adenomatosa do Colo/genética
Hidrocarboneto de Aril Hidroxilases/genética
Cromossomos Humanos Par 19
Neoplasias Colorretais/genética
Família 2 do Citocromo P450/genética
Proteínas da Matriz Extracelular/genética
Genes APC
Proteínas de Neoplasias/genética
RNA Longo não Codificante/genética
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Prolina Dioxigenases do Fator Induzível por Hipóxia/genética
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 0 (MIA protein, human); 0 (Neoplasm Proteins); 0 (RNA, Long Noncoding); EC 1.14.11.29 (EGLN2 protein, human); EC 1.14.11.29 (Hypoxia-Inducible Factor-Proline Dioxygenases); EC 1.14.14.1 (Aryl Hydrocarbon Hydroxylases); EC 1.14.14.1 (CYP2A7 protein, human); EC 1.14.14.1 (Cytochrome P450 Family 2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173772


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[PMID]:28282712
[Au] Autor:Sadighi S; Ghaffari-Moghaddam M; Saffari M; Mohagheghi MA; Shirkoohi R
[Ad] Endereço:Department of Medical Oncology, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Título:A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene.
[So] Source:Acta Med Iran;55(2):134-138, 2017 Feb.
[Is] ISSN:1735-9694
[Cp] País de publicação:Iran
[La] Idioma:eng
[Ab] Resumo:Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP) as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass. She had strong family history of FAP and underwent prophylactic total colectomy. Pre-operative CT scans revealed a large mass. Microscopic observation showed diffuse fibroblast cell infiltration of the adjacent tissue structures. Peripheral blood DNA extraction followed by adenomatous polyposis coli gene exon by exon sequencing was performed to investigate the mutation in adenomatous polyposis coli gene. Analysis of DNA sequencing demonstrated a mutation of 4 bpdeletions at codon 1309-1310 of the exon 16 of adenomatous polyposis coli gene sequence which was repeated in 3 members of the family. Some of them had desmoid tumor without classical FAP history. Even when there is no familial history of adenomatous polyposis, the adenomatous polyposis coli gene mutation should be investigated in cases of familial desmoids tumors for a suitable prevention. The 3΄ extreme of the adenomatous polyposis coli gene is still the best likely location in such families.
[Mh] Termos MeSH primário: Neoplasias Abdominais/genética
Polipose Adenomatosa do Colo/genética
Fibromatose Abdominal/genética
Mutação da Fase de Leitura
Genes APC
[Mh] Termos MeSH secundário: Adulto
Feminino
Predisposição Genética para Doença
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170620
[Lr] Data última revisão:
170620
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE



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