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[PMID]:28911102
[Au] Autor:Nath S; Somyajit K; Mishra A; Scully R; Nagaraju G
[Ad] Endereço:Department of Biochemistry, Indian Institute of Science, Bangalore 560012, India.
[Ti] Título:FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
[So] Source:Nucleic Acids Res;45(15):8886-8900, 2017 Sep 06.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The FANCJ DNA helicase is linked to hereditary breast and ovarian cancers as well as bone marrow failure disorder Fanconi anemia (FA). Although FANCJ has been implicated in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR), the molecular mechanism underlying the tumor suppressor functions of FANCJ remains obscure. Here, we demonstrate that FANCJ deficient human and hamster cells exhibit reduction in the overall gene conversions in response to a site-specific chromosomal DSB induced by I-SceI endonuclease. Strikingly, the gene conversion events were biased in favour of long-tract gene conversions in FANCJ depleted cells. The fine regulation of short- (STGC) and long-tract gene conversions (LTGC) by FANCJ was dependent on its interaction with BRCA1 tumor suppressor. Notably, helicase activity of FANCJ was essential for controlling the overall HR and in terminating the extended repair synthesis during sister chromatid recombination (SCR). Moreover, cells expressing FANCJ pathological mutants exhibited defective SCR with an increased frequency of LTGC. These data unravel the novel function of FANCJ helicase in regulating SCR and SCR associated gene amplification/duplications and imply that these functions of FANCJ are crucial for the genome maintenance and tumor suppression.
[Mh] Termos MeSH primário: Proteína BRCA1/genética
Fatores de Transcrição de Zíper de Leucina Básica/genética
Cromátides/química
DNA/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Reparo de DNA por Recombinação
[Mh] Termos MeSH secundário: Animais
Proteína BRCA1/metabolismo
Fatores de Transcrição de Zíper de Leucina Básica/metabolismo
Células CHO
Linhagem Celular Tumoral
Cromátides/metabolismo
Cricetulus
DNA/metabolismo
Quebras de DNA de Cadeia Dupla
Desoxirribonucleases de Sítio Específico do Tipo II/farmacologia
Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo
Pontos de Checagem da Fase G2 do Ciclo Celular
Regulação da Expressão Gênica
Recombinação Homóloga/efeitos dos fármacos
Seres Humanos
Mutação
Osteoblastos/citologia
Osteoblastos/efeitos dos fármacos
Osteoblastos/metabolismo
Ligação Proteica
Proteínas de Saccharomyces cerevisiae/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BACH1 protein, human); 0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (Basic-Leucine Zipper Transcription Factors); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Saccharomyces cerevisiae Proteins); 9007-49-2 (DNA); EC 3.1.21.- (SCEI protein, S cerevisiae); EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx586


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[PMID]:28888541
[Au] Autor:Lilyquist J; LaDuca H; Polley E; Davis BT; Shimelis H; Hu C; Hart SN; Dolinsky JS; Couch FJ; Goldgar DE
[Ad] Endereço:Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
[Ti] Título:Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
[So] Source:Gynecol Oncol;147(2):375-380, 2017 Nov.
[Is] ISSN:1095-6859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Given the lack of adequate screening modalities, knowledge of ovarian cancer risks for carriers of pathogenic alterations in predisposition genes is important for decisions about risk-reduction by salpingo-oophorectomy. We sought to determine which genes assayed on multi-gene panels are associated with ovarian cancer, the magnitude of the associations, and for which clinically meaningful associations could be ruled out. METHODS: 7768 adult ovarian cancer cases of European ancestry referred to a single clinical testing laboratory underwent multi-gene panel testing for detection of pathogenic alterations in known or suspected ovarian cancer susceptibility genes. A targeted capture approach was employed to assay each of 19 genes for the presence of pathogenic or likely pathogenic alterations. Mutation frequencies in ovarian cancer cases were compared to mutation frequencies in individuals from the Exome Aggregation Consortium (ExAC). Analyses stratified by family and personal history of other cancers and age at diagnosis were also performed. RESULTS: Significant associations (p<0.001) were identified between alterations in 11 genes and ovarian cancer, with eight of these displaying ≥5-fold increased risk (BRCA1, BRCA2, BRIP1, MSH2, MSH6, RAD51C, RAD51D). Relative risks of ovarian cancer greater than two-fold were also observed for ATM, but could reliably be ruled out for RAD50 and CHEK2. CONCLUSIONS: These results will inform clinical management of women found to carry pathogenic alterations in genes tested on multi-gene panels. The knowledge that some genes are not associated with OC can reduce concerns of women found to carry pathogenic alterations in those genes.
[Mh] Termos MeSH primário: Mutação
Neoplasias Ovarianas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Proteínas Mutadas de Ataxia Telangiectasia/genética
Proteína BRCA1/genética
Proteína BRCA2/genética
Estudos de Casos e Controles
Proteínas de Ligação a DNA/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi
Feminino
Predisposição Genética para Doença
Seres Humanos
Meia-Idade
Proteína 2 Homóloga a MutS/genética
RNA Helicases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA1 Protein); 0 (BRCA1 protein, human); 0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (DNA-Binding Proteins); 0 (Fanconi Anemia Complementation Group Proteins); 0 (G-T mismatch-binding protein); 0 (RAD51C protein, human); 0 (RAD51D protein, human); EC 2.7.11.1 (ATM protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins); EC 3.6.1.3 (MSH2 protein, human); EC 3.6.1.3 (MutS Homolog 2 Protein); EC 3.6.4.13 (BRIP1 protein, human); EC 3.6.4.13 (RNA Helicases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170911
[St] Status:MEDLINE


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[PMID]:28678401
[Au] Autor:Chandrasekharappa SC; Chinn SB; Donovan FX; Chowdhury NI; Kamat A; Adeyemo AA; Thomas JW; Vemulapalli M; Hussey CS; Reid HH; Mullikin JC; Wei Q; Sturgis EM
[Ad] Endereço:Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
[Ti] Título:Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
[So] Source:Cancer;123(20):3943-3954, 2017 Oct 15.
[Is] ISSN:1097-0142
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with Fanconi anemia (FA) have an increased risk for head and neck squamous cell carcinoma (HNSCC). The authors sought to determine the prevalence of undiagnosed FA and FA carriers among patients with HNSCC as well as an age cutoff for FA genetic screening. METHODS: Germline DNA samples from 417 patients with HNSCC aged <50 years were screened for sequence variants by targeted next-generation sequencing of the entire length of 16 FA genes. RESULTS: The sequence revealed 194 FA gene variants in 185 patients (44%). The variant spectrum was comprised of 183 nonsynonymous point mutations, 9 indels, 1 large deletion, and 1 synonymous variant that was predicted to effect splicing. One hundred eight patients (26%) had at least 1 rare variant that was predicted to be damaging, and 57 (14%) had at least 1 rare variant that was predicted to be damaging and had been previously reported. Fifteen patients carried 2 rare variants or an X-linked variant in an FA gene. Overall, an age cutoff for FA screening was not identified among young patients with HNSCC, because there were no significant differences in mutation rates when patients were stratified by age, tumor site, ethnicity, smoking status, or human papillomavirus status. However, an increased burden, or mutation load, of FA gene variants was observed in carriers of the genes FA complementation group D2 (FANCD2), FANCE, and FANCL in the HNSCC patient cohort relative to the 1000 Genomes population. CONCLUSIONS: FA germline functional variants offer a novel area of study in HNSCC tumorigenesis. FANCE and FANCL, which are components of the core complex, are known to be responsible for the recruitment and ubiquitination, respectively, of FANCD2, a critical step in the FA DNA repair pathway. In the current cohort, the increased mutation load of FANCD2, FANCE, and FANCL variants among younger patients with HNSCC indicates the importance of the FA pathway in HNSCC. Cancer 2017;123:3943-54. © 2017 American Cancer Society.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Anemia de Fanconi/genética
Neoplasias de Cabeça e Pescoço/genética
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Proteína BRCA2/genética
Análise Mutacional de DNA
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética
Proteína do Grupo de Complementação E da Anemia de Fanconi/genética
Proteína do Grupo de Complementação L da Anemia de Fanconi/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Feminino
Mutação em Linhagem Germinativa
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Recombinases/genética
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (FANCD2 protein, human); 0 (FANCE protein, human); 0 (FANCI protein, human); 0 (Fanconi Anemia Complementation Group D2 Protein); 0 (Fanconi Anemia Complementation Group E Protein); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Recombinases); EC 2.3.2.27 (FANCL protein, human); EC 2.3.2.27 (Fanconi Anemia Complementation Group L Protein); EC 3.1.- (SLX4 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170706
[St] Status:MEDLINE
[do] DOI:10.1002/cncr.30802


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[PMID]:28657667
[Au] Autor:Pilié PG; Johnson AM; Hanson KL; Dayno ME; Kapron AL; Stoffel EM; Cooney KA
[Ad] Endereço:Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas.
[Ti] Título:Germline genetic variants in men with prostate cancer and one or more additional cancers.
[So] Source:Cancer;123(20):3925-3932, 2017 Oct 15.
[Is] ISSN:1097-0142
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Prostate cancer has a significant heritable component, and rare deleterious germline variants in certain genes can increase the risk of the disease. The aim of the current study was to describe the prevalence of pathogenic germline variants in cancer-predisposing genes in men with prostate cancer and at least 1 additional primary cancer. METHODS: Using a multigene panel, the authors sequenced germline DNA from 102 men with prostate cancer and at least 1 additional primary cancer who also met ≥1 of the following criteria: 1) age ≤55 years at the time of diagnosis of the first malignancy; 2) rare tumor type or atypical presentation of a common tumor; and/or 3) ≥3 primary malignancies. Cancer family history and clinicopathologic data were independently reviewed by a clinical genetic counselor to determine whether the patient met established criteria for testing for a hereditary cancer syndrome. RESULTS: Sequencing identified approximately 3500 variants. Nine protein-truncating deleterious mutations were found across 6 genes, including BRCA2, ataxia telangiectasia mutated (ATM), mutL homolog 1 (MLH1), BRCA1 interacting protein C-terminal helicase 1 (BRIP1), partner and localizer of BRCA2 (PALB2), and fibroblast growth factor receptor 3 (FGFR3). Likely pathogenic missense variants were identified in checkpoint kinase 2 (CHEK2) and homeobox protein Hox-B13 (HOXB13). In total, 11 of 102 patients (10.8%) were found to have pathogenic or likely pathogenic mutations in cancer-predisposing genes. The majority of these men (64%) did not meet current clinical criteria for germline testing. CONCLUSIONS: Men with prostate cancer and at least 1 additional primary cancer are enriched for harboring a germline deleterious mutation in a cancer-predisposing gene that may impact cancer prognosis and treatment, but the majority do not meet current criteria for clinical genetic testing. Cancer 2017;123:3925-32. © 2017 American Cancer Society.
[Mh] Termos MeSH primário: Mutação em Linhagem Germinativa
Segunda Neoplasia Primária/genética
Síndromes Neoplásicas Hereditárias/genética
Neoplasias da Próstata/genética
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Idoso
Idoso de 80 Anos ou mais
Proteínas Mutadas de Ataxia Telangiectasia/genética
Proteína BRCA2/genética
Quinase do Ponto de Checagem 2/genética
Análise Mutacional de DNA
Proteínas de Ligação a DNA/genética
Proteína do Grupo de Complementação N da Anemia de Fanconi
Proteínas de Grupos de Complementação da Anemia de Fanconi
Predisposição Genética para Doença
Proteínas de Homeodomínio/genética
Seres Humanos
Masculino
Meia-Idade
Proteína 1 Homóloga a MutL/genética
Mutação de Sentido Incorreto
Síndromes Neoplásicas Hereditárias/diagnóstico
Proteínas Nucleares/genética
RNA Helicases/genética
Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética
Análise de Sequência de DNA
Proteínas Supressoras de Tumor/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA2 Protein); 0 (BRCA2 protein, human); 0 (DNA-Binding Proteins); 0 (Fanconi Anemia Complementation Group N Protein); 0 (Fanconi Anemia Complementation Group Proteins); 0 (HOXB13 protein, human); 0 (Homeodomain Proteins); 0 (MLH1 protein, human); 0 (Nuclear Proteins); 0 (PALB2 protein, human); 0 (Tumor Suppressor Proteins); EC 2.7.1.11 (Checkpoint Kinase 2); EC 2.7.10.1 (FGFR3 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3); EC 2.7.11.1 (ATM protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins); EC 2.7.11.1 (CHEK2 protein, human); EC 3.6.1.3 (MutL Protein Homolog 1); EC 3.6.4.13 (BRIP1 protein, human); EC 3.6.4.13 (RNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170629
[St] Status:MEDLINE
[do] DOI:10.1002/cncr.30817


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[PMID]:28645578
[Au] Autor:Su C; Liu Z; Wang Y; Wang Y; Song E; Song Y
[Ad] Endereço:Key Laboratory of Luminescence and Real-Time Analytical Chemistry (Southwest University), Ministry of Education, College of Pharmaceutical Sciences, Southwest University, Chongqing, 400715, People's Republic of China; Institute for Drug and Instrument Control of Health Dept GLD of PLA, Beijing, 1000
[Ti] Título:The electrophilic character of quinones is essential for the suppression of Bach1.
[So] Source:Toxicology;387:17-26, 2017 Jul 15.
[Is] ISSN:1879-3185
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The activation of nuclear factor erythroid 2-related factor 2 (Nrf2) is the most important cellular defense mechanisms against oxidative attack. BTB and CNC homology-1 (Bach1), like Kelch-like ECH-associated protein 1 (Keap1), is one of a negative regulator of Nrf2 that control antioxidant response elements (ARE)-dependent gene expressions. In the current study, we found that quinones show greater capacity than hydroquinones in nuclear Bach1 export, as well as ubiquitin-dependent Bach1 degradation in our experimental time frame. Consistently, quinones are easier than hydroquinones in Nrf2 activation and ARE-driven antioxidant protein expressions. Considering the redox cycling potential of quinone-hydroquinone couple, we investigated the effect of transit metal oxidation on the regulation of Nrf2 activity. As shown, Fe enhanced hydroquinone-induced Nrf2 activation and ARE-driven gene expressions, suggesting quinones rather than hydroquinone activate Nrf2 through Bach1 arylation. Taking together, our investigation illustrated that the electrophilic character of quinones ensure their conjugation with Bach1, which is important for the downregulation of Bach1 and the upregulation of Nrf2 signaling.
[Mh] Termos MeSH primário: Fatores de Transcrição de Zíper de Leucina Básica/metabolismo
Benzoquinonas/toxicidade
Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo
Hepatócitos/efeitos dos fármacos
Hidroquinonas/toxicidade
Quinonas/toxicidade
[Mh] Termos MeSH secundário: Elementos de Resposta Antioxidante
Fatores de Transcrição de Zíper de Leucina Básica/genética
Regulação para Baixo
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Glutationa/metabolismo
Células Hep G2
Hepatócitos/metabolismo
Seres Humanos
Ferro/metabolismo
Fator 2 Relacionado a NF-E2/metabolismo
Oxirredução
Ligação Proteica
Proteólise/efeitos dos fármacos
Transdução de Sinais/efeitos dos fármacos
Fatores de Tempo
Ubiquitinação/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (1,4-dihydroquinone); 0 (BACH1 protein, human); 0 (Basic-Leucine Zipper Transcription Factors); 0 (Benzoquinones); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Hydroquinones); 0 (NF-E2-Related Factor 2); 0 (NFE2L2 protein, human); 0 (Quinones); C12674942B (2-tert-butylhydroquinone); E1UOL152H7 (Iron); F18QT8490S (2-tert-butyl-4-quinone); GAN16C9B8O (Glutathione)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170625
[St] Status:MEDLINE


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[PMID]:28588024
[Au] Autor:Keck KM; Moquin SA; He A; Fernandez SG; Somberg JJ; Liu SM; Martinez DM; Miranda JL
[Ad] Endereço:the Gladstone Institute of Virology and Immunology, San Francisco, California 94158.
[Ti] Título:Bromodomain and extraterminal inhibitors block the Epstein-Barr virus lytic cycle at two distinct steps.
[So] Source:J Biol Chem;292(32):13284-13295, 2017 Aug 11.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lytic infection by the Epstein-Barr virus (EBV) poses numerous health risks, such as infectious mononucleosis and lymphoproliferative disorder. Proteins in the bromodomain and extraterminal (BET) family regulate multiple stages of viral life cycles and provide promising intervention targets. Synthetic small molecules can bind to the bromodomains and disrupt function by preventing recognition of acetylated lysine substrates. We demonstrate that JQ1 and other BET inhibitors block two different steps in the sequential cascade of the EBV lytic cycle. BET inhibitors prevent expression of the viral immediate-early protein BZLF1. JQ1 alters transcription of genes controlled by the host protein BACH1, and BACH1 knockdown reduces BZLF1 expression. BET proteins also localize to the lytic origin of replication (OriLyt) genetic elements, and BET inhibitors prevent viral late gene expression. There JQ1 reduces BRD4 recruitment during reactivation to preclude replication initiation. This represents a rarely observed dual mode of action for drugs.
[Mh] Termos MeSH primário: Antivirais/farmacologia
Fatores de Transcrição de Zíper de Leucina Básica/antagonistas & inibidores
Proteínas de Grupos de Complementação da Anemia de Fanconi/antagonistas & inibidores
Regulação Viral da Expressão Gênica/efeitos dos fármacos
Herpesvirus Humano 4/efeitos dos fármacos
Proteínas Nucleares/antagonistas & inibidores
Transativadores/antagonistas & inibidores
Fatores de Transcrição/antagonistas & inibidores
Proteínas Virais/antagonistas & inibidores
[Mh] Termos MeSH secundário: Acetilação
Azepinas/farmacologia
Fatores de Transcrição de Zíper de Leucina Básica/química
Fatores de Transcrição de Zíper de Leucina Básica/genética
Fatores de Transcrição de Zíper de Leucina Básica/metabolismo
Linhagem Celular
Proteínas de Grupos de Complementação da Anemia de Fanconi/química
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo
Herpesvirus Humano 4/fisiologia
Interações Hospedeiro-Patógeno/efeitos dos fármacos
Seres Humanos
Lisina/metabolismo
Proteínas Nucleares/química
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
Domínios e Motivos de Interação entre Proteínas
Processamento de Proteína Pós-Traducional
Transporte Proteico/efeitos dos fármacos
Interferência de RNA
Origem de Replicação/efeitos dos fármacos
Transativadores/química
Transativadores/genética
Transativadores/metabolismo
Fatores de Transcrição/química
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
Triazóis/farmacologia
Proteínas Virais/química
Proteínas Virais/genética
Proteínas Virais/metabolismo
Ativação Viral/efeitos dos fármacos
Fenômenos Fisiológicos Virais/efeitos dos fármacos
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 ((+)-JQ1 compound); 0 (Antiviral Agents); 0 (Azepines); 0 (BACH1 protein, human); 0 (BRD4 protein, human); 0 (BZLF1 protein, Herpesvirus 4, Human); 0 (Basic-Leucine Zipper Transcription Factors); 0 (Fanconi Anemia Complementation Group Proteins); 0 (Nuclear Proteins); 0 (Trans-Activators); 0 (Transcription Factors); 0 (Triazoles); 0 (Viral Proteins); K3Z4F929H6 (Lysine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170608
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M116.751644


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[PMID]:28552166
[Au] Autor:Ishiai M; Sato K; Tomida J; Kitao H; Kurumizaka H; Takata M
[Ad] Endereço:Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto, Japan.
[Ti] Título:Activation of the FA pathway mediated by phosphorylation and ubiquitination.
[So] Source:Mutat Res;803-805:89-95, 2017 Oct.
[Is] ISSN:1873-135X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Fanconi anemia (FA) is a devastating hereditary condition that impacts genome integrity, leading to clinical features such as skeletal and visceral organ malformations, attrition of bone marrow stem cells, and carcinogenesis. At least 21 proteins, when absent or defective, have been implicated in this disorder, and they together constitute the FA pathway, which functions in detection and repair of, and tolerance to, endogenous DNA damage. The damage primarily handled by the FA pathway has been assumed to be related to DNA interstrand crosslinks (ICLs). The FA pathway is activated upon ICL damage, and a hallmark of this activation is the mono-ubiquitination events of the key FANCD2-FANCI protein complex. Recent data have revealed unexpectedly complex details in the regulation of FA pathway activation by ICLs. In this short review, we summarize the knowledge accumulated over the years regarding how the FA pathway is activated via protein modifications.
[Mh] Termos MeSH primário: Dano ao DNA
Anemia de Fanconi/genética
Processamento de Proteína Pós-Traducional
Ubiquitinação
[Mh] Termos MeSH secundário: Animais
Linhagem Celular Tumoral
Galinhas
Reparo do DNA
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/genética
Proteína do Grupo de Complementação D2 da Anemia de Fanconi/metabolismo
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo
Fibroblastos/citologia
Células HCT116
Seres Humanos
Fosforilação
Proteases Específicas de Ubiquitina/genética
Proteases Específicas de Ubiquitina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (FANCD2 protein, human); 0 (FANCI protein, human); 0 (Fanconi Anemia Complementation Group D2 Protein); 0 (Fanconi Anemia Complementation Group Proteins); EC 3.4.19.12 (USP1 protein, human); EC 3.4.19.12 (Ubiquitin-Specific Proteases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170530
[St] Status:MEDLINE


  8 / 724 MEDLINE  
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[PMID]:28474441
[Au] Autor:Dufour C
[Ad] Endereço:Haematology Unit, G. Gaslini Children's Research Hospital, Genova, Italy.
[Ti] Título:How I manage patients with Fanconi anaemia.
[So] Source:Br J Haematol;178(1):32-47, 2017 Jul.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.
[Mh] Termos MeSH primário: Anemia de Fanconi/terapia
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/genética
Tomada de Decisão Clínica/métodos
Anemia de Fanconi/diagnóstico
Anemia de Fanconi/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Histocompatibilidade
Teste de Histocompatibilidade
Seres Humanos
Mutação
Transplante de Células-Tronco/efeitos adversos
Transplante de Células-Tronco/métodos
Doadores de Tecidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Fanconi Anemia Complementation Group Proteins)
[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:170506
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14615


  9 / 724 MEDLINE  
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[PMID]:28418444
[Au] Autor:Couch FJ; Shimelis H; Hu C; Hart SN; Polley EC; Na J; Hallberg E; Moore R; Thomas A; Lilyquist J; Feng B; McFarland R; Pesaran T; Huether R; LaDuca H; Chao EC; Goldgar DE; Dolinsky JS
[Ad] Endereço:Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
[Ti] Título:Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.
[So] Source:JAMA Oncol;3(9):1190-1196, 2017 Sep 01.
[Is] ISSN:2374-2445
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Germline pathogenic variants in BRCA1 and BRCA2 predispose to an increased lifetime risk of breast cancer. However, the relevance of germline variants in other genes from multigene hereditary cancer testing panels is not well defined. Objective: To determine the risks of breast cancer associated with germline variants in cancer predisposition genes. Design, Setting, and Participants: A study population of 65 057 patients with breast cancer receiving germline genetic testing of cancer predisposition genes with hereditary cancer multigene panels. Associations between pathogenic variants in non-BRCA1 and non-BRCA2 predisposition genes and breast cancer risk were estimated in a case-control analysis of patients with breast cancer and Exome Aggregation Consortium reference controls. The women underwent testing between March 15, 2012, and June 30, 2016. Main Outcomes and Measures: Breast cancer risk conferred by pathogenic variants in non-BRCA1 and non-BRCA2 predisposition genes. Results: The mean (SD) age at diagnosis for the 65 057 women included in the analysis was 48.5 (11.1) years. The frequency of pathogenic variants in 21 panel genes identified in 41 611 consecutively tested white women with breast cancer was estimated at 10.2%. After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), observed pathogenic variants in 5 of 16 genes were associated with high or moderately increased risks of breast cancer: ATM (OR, 2.78; 95% CI, 2.22-3.62), BARD1 (OR, 2.16; 95% CI, 1.31-3.63), CHEK2 (OR, 1.48; 95% CI, 1.31-1.67), PALB2 (OR, 7.46; 95% CI, 5.12-11.19), and RAD51D (OR, 3.07; 95% CI, 1.21-7.88). Conversely, variants in the BRIP1 and RAD51C ovarian cancer risk genes; the MRE11A, RAD50, and NBN MRN complex genes; the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with increased risks of breast cancer. Conclusions and Relevance: This study establishes several panel genes as high- and moderate-risk breast cancer genes and provides estimates of breast cancer risk associated with pathogenic variants in these genes among individuals qualifying for clinical genetic testing.
[Mh] Termos MeSH primário: Proteínas Mutadas de Ataxia Telangiectasia/genética
Neoplasias da Mama/genética
Quinase do Ponto de Checagem 2/genética
Proteínas de Ligação a DNA/genética
Predisposição Genética para Doença
Proteínas Nucleares/genética
Neoplasias Ovarianas/genética
Proteínas Supressoras de Tumor/genética
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Proteínas de Ciclo Celular/genética
Inibidor de Quinase Dependente de Ciclina p18/genética
Enzimas Reparadoras do DNA/genética
Grupo com Ancestrais do Continente Europeu/genética
Proteína do Grupo de Complementação N da Anemia de Fanconi
Proteínas de Grupos de Complementação da Anemia de Fanconi
Feminino
Testes Genéticos
Mutação em Linhagem Germinativa
Seres Humanos
Proteína Homóloga a MRE11
Meia-Idade
Endonuclease PMS2 de Reparo de Erro de Pareamento/genética
Proteína 1 Homóloga a MutL/genética
Proteína 2 Homóloga a MutS/genética
Neurofibromina 1/genética
Fenótipo
RNA Helicases/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CDKN2A protein, human); 0 (Cell Cycle Proteins); 0 (Cyclin-Dependent Kinase Inhibitor p18); 0 (DNA-Binding Proteins); 0 (Fanconi Anemia Complementation Group N Protein); 0 (Fanconi Anemia Complementation Group Proteins); 0 (G-T mismatch-binding protein); 0 (MLH1 protein, human); 0 (MRE11A protein, human); 0 (NBN protein, human); 0 (Neurofibromin 1); 0 (Nuclear Proteins); 0 (PALB2 protein, human); 0 (RAD51C protein, human); 0 (RAD51D protein, human); 0 (Rad50 protein, human); 0 (Tumor Suppressor Proteins); EC 2.3.2.27 (BARD1 protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases); EC 2.7.1.11 (Checkpoint Kinase 2); EC 2.7.11.1 (ATM protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins); EC 2.7.11.1 (CHEK2 protein, human); EC 3.1.- (MRE11 Homologue Protein); EC 3.6.1.- (PMS2 protein, human); EC 3.6.1.3 (MSH2 protein, human); EC 3.6.1.3 (Mismatch Repair Endonuclease PMS2); EC 3.6.1.3 (MutL Protein Homolog 1); EC 3.6.1.3 (MutS Homolog 2 Protein); EC 3.6.4.13 (BRIP1 protein, human); EC 3.6.4.13 (RNA Helicases); EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE
[do] DOI:10.1001/jamaoncol.2017.0424


  10 / 724 MEDLINE  
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[PMID]:28349828
[Au] Autor:Mohammadzadeh R; Saeid Harouyan M; Ale Taha SM
[Ad] Endereço:1 Department of Cell and Molecular Biology, Faculty of Basic Science, University of Maragheh, Maragheh, Iran.
[Ti] Título:Silencing of bach1 gene by small interfering RNA-mediation regulates invasive and expression level of miR-203, miR-145, matrix metalloproteinase-9, and CXCR4 receptor in MDA-MB-468 breast cancer cells.
[So] Source:Tumour Biol;39(3):1010428317695925, 2017 Mar.
[Is] ISSN:1423-0380
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Recently experimental validation of the networks revealed bach1, a basic leucine zipper transcription factor, as the common regulator of several functional invasive genes. The expression of bach1 and its target genes was linked to the higher risk of breast cancer recurrence in patients. The aim of this study was to investigate the effect of specific bach1 small interfering RNAs, on the invasive and expression level of miR-203, miR-145, matrix metalloproteinase-9, and CXCR4 receptor which play a role in cancer metastasis, in MDA-MB-468 cell lines. METHODS: Small interfering RNA transfection was performed with transfection regent. The survival effects of small interfering RNA were determined using trypan blue assay cells. The expression level of messenger RNA and matrix metalloproteinase-9 to assess cell invasion and the expression level of miR-203, miR-145, and CXCR4 receptor were measured by quantitative real-time polymerase chain reaction analysis on the MDA-MB-468 cell lines. RESULTS: Transfection with small interfering RNA significantly suppressed the expression of bach1 gene in dose-dependent manner after 48 h ( p < 0.0001). A significant reduction in cell invasion and CXCR4 receptor, matrix metalloproteinase-9 expression were observed ( p < 0.0001). It was also a dramatic increase in the expression level of miR-203 and miR-145 ( p < 0.0001). CONCLUSIONS: Our results suggest that the bach1-specific small interfering RNA effectively decrease CXCR4 receptor, matrix metalloproteinase-9 expression and breast adenocarcinoma cells invasive, also increased the expression of tumor-suppressive microRNA-203 and miR-145. Thus, these microRNAs may play a role in invasive/metastasis of carcinogenic breast cancer cells. Therefore, bach1 knockdown can be considered as a potent adjuvant in breast cancer therapy.
[Mh] Termos MeSH primário: Fatores de Transcrição de Zíper de Leucina Básica/genética
Neoplasias da Mama/genética
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética
Metaloproteinase 9 da Matriz/biossíntese
MicroRNAs/biossíntese
Receptores CXCR4/biossíntese
[Mh] Termos MeSH secundário: Fatores de Transcrição de Zíper de Leucina Básica/antagonistas & inibidores
Neoplasias da Mama/patologia
Linhagem Celular Tumoral
Proteínas de Grupos de Complementação da Anemia de Fanconi/antagonistas & inibidores
Feminino
Regulação Neoplásica da Expressão Gênica
Inativação Gênica
Seres Humanos
Metaloproteinase 9 da Matriz/genética
MicroRNAs/genética
Invasividade Neoplásica/genética
Metástase Neoplásica
RNA Interferente Pequeno/genética
Receptores CXCR4/genética
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BACH1 protein, human); 0 (Basic-Leucine Zipper Transcription Factors); 0 (CXCR4 protein, human); 0 (Fanconi Anemia Complementation Group Proteins); 0 (MIRN145 microRNA, human); 0 (MIRN203 microRNA, human); 0 (MicroRNAs); 0 (RNA, Small Interfering); 0 (Receptors, CXCR4); EC 3.4.24.35 (Matrix Metalloproteinase 9)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170407
[Lr] Data última revisão:
170407
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE
[do] DOI:10.1177/1010428317695925



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