换一批
换一批FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
作者：
Paolo,Peterlongo [1]
;
Irene,Catucci [2]
;
Mara,Colombo [3]
;
Laura,Caleca [3]
;
Eliseos,Mucaki [4]
;
Massimo,Bogliolo [5]
;
Maria,Marin [5]
;
Francesca,Damiola [6]
;
Loris,Bernard [7]
;
Valeria,Pensotti [8]
;
Sara,Volorio [8]
;
Valentina,Dall'Olio [8]
;
Alfons,Meindl [9]
;
Claus,Bartram [10]
;
Christian,Sutter [10]
;
Harald,Surowy [11]
;
Valérie,Sornin [6]
;
Marie-Gabrielle,Dondon [12]
;
Séverine,Eon-Marchais [12]
;
Dominique,Stoppa-Lyonnet [13]
;
Nadine,Andrieu [12]
;
Olga M,Sinilnikova [14]
;
GENESIS [15]
;
Gillian,Mitchell [15]
;
Paul A,James [16]
;
Ella,Thompson [17]
;
kConFab [18]
;
SWE-BRCA [17]
;
Marina,Marchetti [19]
;
Cristina,Verzeroli [19]
;
Carmen,Tartari [20]
;
Gabriele Lorenzo,Capone [21]
;
Anna Laura,Putignano [21]
;
Maurizio,Genuardi [21]
;
Veronica,Medici [22]
;
Isabella,Marchi [22]
;
Massimo,Federico [22]
;
Silvia,Tognazzo [23]
;
Laura,Matricardi [24]
;
Simona,Agata [24]
;
Riccardo,Dolcetti [25]
;
Lara,Della Puppa [25]
;
Giulia,Cini [25]
;
Viviana,Gismondi [26]
;
Valeria,Viassolo [26]
;
Chiara,Perfumo [27]
;
Maria Antonietta,Mencarelli [27]
;
Margherita,Baldassarri [28]
;
Bernard,Peissel [28]
;
Gaia,Roversi [29]
;
Valentina,Silvestri [29]
;
Piera,Rizzolo [30]
;
Francesca,Spina [31]
;
Caterina,Vivanet [31]
;
Maria Grazia,Tibiletti [32]
;
Maria Adelaide,Caligo [32]
;
Gaetana,Gambino [33]
;
Stefania,Tommasi [33]
;
Brunella,Pilato [34]
;
Carlo,Tondini [34]
;
Chiara,Corna [35]
;
Bernardo,Bonanni [35]
;
Monica,Barile [29]
;
Ana,Osorio [28]
;
Javier,Benitez [27]
;
Luisa,Balestrino [36]
;
Laura,Ottini [26]
;
Siranoush,Manoukian [25]
;
Marco A,Pierotti [37]
;
Alessandra,Renieri [37]
;
Liliana,Varesco [38]
;
Fergus J,Couch [39]
;
Xianshu,Wang [40]
;
Peter,Devilee [24]
;
Florentine S,Hilbers [22]
;
Christi J,van Asperen [21]
;
Alessandra,Viel [41]
;
Marco,Montagna [42]
;
Laura,Cortesi [43]
;
Orland,Diez [43]
;
Judith,Balmaña [44]
;
Jan,Hauke [45]
;
Rita K,Schmutzler [45]
;
Laura,Papi [17]
;
Miguel Angel,Pujana [46]
;
Conxi,Lázaro [46]
;
Anna,Falanga [47]
;
Kenneth,Offit [11]
;
Joseph,Vijai [48]
;
Ian,Campbell [49]
;
Barbara,Burwinkel [6]
;
Anders,Kvist [50]
;
Hans,Ehrencrona [50]
;
Sylvie,Mazoyer [5]
;
Sara,Pizzamiglio [4]
;
Paolo,Verderio [2]
;
Jordi,Surralles ;
Peter K,Rogan ;
Paolo,Radice
作者单位：
IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, paolo.peterlongo@ifom.eu.
[1]
IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
[2]
Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.
[3]
Department of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
[4]
Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.
[5]
Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France.
[6]
Department of Experimental Oncology and Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
[7]
IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy.
[8]
Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
[9]
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
[10]
Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology, University Hospital Heidelberg, Heidelberg, Germany, Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
[11]
INSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France.
[12]
Service de Génétique Oncologique, Institut Curie, Paris, France, INSERM, U830, Paris, France, Université Paris-Descartes, Paris, France.
[13]
Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France.
[14]
Familial Cancer Centre, Sir Peter MacCallum Department of Oncology and.
[15]
Cancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and.
[16]
Department of Immunohematology and Transfusion Medicine and.
[17]
Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
[18]
Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.
[19]
Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy, Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University, Rome, Italy.
[20]
Dipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy.
[21]
Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy.
[22]
Cancer Bio-Immunotherapy Unit and.
[23]
Unit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy.
[24]
Unit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy.
[25]
Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
[26]
Unit of Medical Genetics, Department of Preventive and Predictive Medicine.
[27]
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
[28]
SC Medical Genetics, ASl8 Cagliari, Cagliari, Italy.
[29]
Unit of Pathology, Ospedale di Circolo, Varese, Italy.
[30]
Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.
[31]
IRCCS Istituto Tumori 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari, Italy.
[32]
Unit of Medical Oncology, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.
[33]
Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
[34]
Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain, Spanish Genotyping Centre (CEGEN), Madrid, Spain.
[35]
Scientific Directorate and.
[36]
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
[37]
Department of Human Genetics, Department of Pathology and.
[38]
Department of Human Genetics.
[39]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[40]
Oncogenetics Group, Hospital Universitari de la Vall d'Hebron, Barcelona, Spain, Vall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Universitat Autònoma de Barcelona, Barcelona, Spain.
[41]
Vall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Department of Medical Oncology, Hospital Universitari de la Vall d́Hebron, Barcelona, Spain.
[42]
Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
[43]
Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy.
[44]
Catalan Institute of Oncology - IDIBELL, Barcelona, Spain.
[45]
Clinical Genetics Service, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
[46]
Cancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and Department of Pathology, University of Melbourne, Parkville, Victoria, Australia.
[47]
Division of Oncology, Department of Clinical Sciences.
[48]
Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services and Department of Clinical Genetics, Lund University, Lund, Sweden.
[49]
Unit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
[50]
主题词
成年人(Adult);发病年龄(Age of Onset);等位基因(Alleles);选择性剪接(Alternative Splicing);结合部位(Binding Sites);乳腺肿瘤(Breast Neoplasms);病例对照研究(Case-Control Studies);密码子, 无义(Codon, Nonsense);DNA解旋酶类(DNA Helicases);DNA突变分析(DNA Mutational Analysis);DNA修复(DNA Repair);外显子(Exons);女(雌)性(Female);基因表达(Gene Expression);基因频率(Gene Frequency);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);核不均一核糖核蛋白A-B组(Heterogeneous-Nuclear Ribonucleoprotein Group A-B);人类(Humans);Meta分析(主题)(Meta-Analysis as Topic);中年人(Middle Aged);位置特异性得分矩阵(Position-Specific Scoring Matrices);蛋白质结合(Protein Binding);危险因素(Risk Factors);青年人(Young Adult)
DOI
10.1093/hmg/ddv251
PMID
26130695
发布时间
2022-03-10
- 浏览18
Human molecular genetics
Human molecular genetics
5345-55页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
