换一批
换一批Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
第一作者：
José,Garcia-Pelaez
第一单位：
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
作者：
José,Garcia-Pelaez [1]
;
Rita,Barbosa-Matos [2]
;
Silvana,Lobo [2]
;
Alexandre,Dias [3]
;
Luzia,Garrido [4]
;
Sérgio,Castedo [5]
;
Sónia,Sousa [3]
;
Hugo,Pinheiro [6]
;
Liliana,Sousa [7]
;
Rita,Monteiro [8]
;
Joaquin J,Maqueda [9]
;
Susana,Fernandes [10]
;
Fátima,Carneiro [5]
;
Nádia,Pinto [11]
;
Carolina,Lemos [12]
;
Carla,Pinto [13]
;
Manuel R,Teixeira [14]
;
Stefan,Aretz [15]
;
Svetlana,Bajalica-Lagercrantz [16]
;
Judith,Balmaña [17]
;
Ana,Blatnik [18]
;
Patrick R,Benusiglio [19]
;
Maud,Blanluet [20]
;
Vincent,Bours [21]
;
Hilde,Brems [22]
;
Joan,Brunet [23]
;
Daniele,Calistri [24]
;
Gabriel,Capellá [25]
;
Sergio,Carrera [26]
;
Chrystelle,Colas [27]
;
Karin,Dahan [28]
;
Robin,de Putter [29]
;
Camille,Desseignés [19]
;
Elena,Domínguez-Garrido [30]
;
Conceição,Egas [31]
;
D Gareth,Evans [32]
;
Damien,Feret [28]
;
Eleanor,Fewings [33]
;
Rebecca C,Fitzgerald [34]
;
Florence,Coulet [19]
;
María,Garcia-Barcina [35]
;
Maurizio,Genuardi [36]
;
Lisa,Golmard [20]
;
Karl,Hackmann [37]
;
Helen,Hanson [38]
;
Elke,Holinski-Feder [39]
;
Robert,Hüneburg [40]
;
Mateja,Krajc [18]
;
Kristina,Lagerstedt-Robinson [41]
;
Conxi,Lázaro [25]
;
Marjolijn J L,Ligtenberg [42]
;
Cristina,Martínez-Bouzas [43]
;
Sonia,Merino [35]
;
Geneviève,Michils [22]
;
Srdjan,Novaković [44]
;
Ana,Patiño-García [45]
;
Guglielmina Nadia,Ranzani [46]
;
Evelin,Schröck [47]
;
Inês,Silva [48]
;
Catarina,Silveira [48]
;
José L,Soto [49]
;
Isabel,Spier [15]
;
Verena,Steinke-Lange [39]
;
Gianluca,Tedaldi [24]
;
María-Isabel,Tejada [43]
;
Emma R,Woodward [32]
;
Marc,Tischkowitz [33]
;
Nicoline,Hoogerbrugge [50]
;
Carla,Oliveira [51]
作者单位：
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[1]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[2]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[3]
Centro Hospitalar Universitário São João, Porto, Portugal.
[4]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Centro Hospitalar Universitário São João, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Porto, Portugal.
[5]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Serviço de Medicina Interna, Centro Hospitalar Tâmega e Sousa, Penafiel, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[6]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Escola de Economia e Gestão, Universidade do Minho, Braga, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[7]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
[8]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Bioinf2Bio, Porto, Portugal.
[9]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal.
[10]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Center of Mathematics, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[11]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal; Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[12]
Department of Laboratory Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal.
[13]
Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal; Department of Laboratory Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Porto, Portugal.
[14]
Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany; ERN GENTURIS, Bonn, Germany.
[15]
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Cancer Genetic Unit, Karolinska University Hospital Solna, Stockholm, Sweden; Cancer Theme, Karolinska University Hospital Solna, Stockholm, Sweden; ERN GENTURIS, Stockholm, Sweden.
[16]
Hospital Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain; ERN GENTURIS, Barcelona, Spain.
[17]
Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia; ERN GENTURIS, Ljubljana, Slovenia.
[18]
Medical Genetics Department, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Paris, France.
[19]
Service de Génétique Oncologique, Institut Curie, Paris, France.
[20]
Laboratory of Human Genetics, GIGA Institute, University of Liège, Liège, Belgium; Center of Genetics, University Hospital, Liège, Belgium; ERN GENTURIS, Liège, Belgium.
[21]
Department of Human Genetics, University of Leuven, Leuven, Belgium.
[22]
Hereditary Cancer Programme, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research and Girona Biomedical Research Institute, Barcelona-Girona, Spain; ERN GENTURIS, Barcelona, Spain.
[23]
Laboratorio di Bioscienze, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Meldola, Italy.
[24]
Hereditary Cancer Program, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; ERN GENTURIS, Barcelona, Spain.
[25]
Oncology Service, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain.
[26]
Service de Génétique Oncologique, Institut Curie, Paris, France; ERN GENTURIS, Paris, France.
[27]
Center of Human Genetics, IPG, Gosselies, Belgium.
[28]
Clinical Genetics Department, University Hospital of Ghent, Ghent, Belgium; ERN GENTURIS, Ghent, Belgium.
[29]
Molecular Diagnostics Laboratory, Fundación Rioja Salud, Logroño, Spain.
[30]
CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
[31]
Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester, UK.
[32]
Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.
[33]
Early Cancer Institute, University of Cambridge, Cambridge, UK.
[34]
Genetics Unit, Biocruces Bizkaia Health Research Institute, Basurto University Hospital, Bilbao, Bizkaia, Spain.
[35]
Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Salute Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy; UOC Genetica Medica, Dipartimento di Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario A Gemelli IRCCS, Rome, Italy; ERN GENTURIS, Rome, Italy.
[36]
Institute for Clinical Genetics, University Hospital Carl Gustav Carus and Faculty of Medicine, Technische Universität Dresden, Dresden, Germany; National Center for Tumor Diseases, Dresden, Germany: German Cancer Research Center, Heidelberg, Germany; Helmholtz-Zentrum Dresden-Rossendorf, Dresden, Germany; German Cancer Consortium, Dresden, Germany.
[37]
SouthWest Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
[38]
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; Medizinisch Genetisches Zentrum, Munich, Germany; ERN GENTURIS, Munich, Germany.
[39]
Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany; ERN GENTURIS, Bonn, Germany.
[40]
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Cancer Genetic Unit, Karolinska University Hospital Solna, Stockholm, Sweden; ERN GENTURIS, Stockholm, Sweden.
[41]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands; Department of Pathology, Radboud University Medical Center, Nijmegen, Netherlands; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands; ERN GENTURIS, Nijmegen, Netherlands.
[42]
Genetics Service, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain.
[43]
Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia.
[44]
Unidad de Medicina Genómica y Pediatría, Clínica Universidad de Navarra, Programa de Tumores Sólidos, Centro de Investigación Médica Aplicada, Instituto de Investigación Sanitaria de Navarra, Pamplona, Navarra, Spain.
[45]
Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.
[46]
Institute for Clinical Genetics, University Hospital Carl Gustav Carus and Faculty of Medicine, Technische Universität Dresden, Dresden, Germany; National Center for Tumor Diseases, Dresden, Germany: German Cancer Research Center, Heidelberg, Germany; Helmholtz-Zentrum Dresden-Rossendorf, Dresden, Germany; German Cancer Consortium, Dresden, Germany; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany; ERN GENTURIS, Dresden, Germany.
[47]
GenoMed-Diagnósticos de Medicina Molecular, Lisbon, Portugal.
[48]
Molecular Genetics Laboratory, Elche University Hospital, Elche, Spain.
[49]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands; ERN GENTURIS, Nijmegen, Netherlands.
[50]
Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Faculty of Medicine, University of Porto, Porto, Portugal; Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal; European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Porto, Portugal. Electronic address: carlaol@i3s.up.pt.
[51]
主题词
女(雌)性(Female);人类(Humans);抗原, CD(Antigens, CD);乳腺肿瘤(Breast Neoplasms);钙黏着糖蛋白类(Cadherins);癌, 小叶状(Carcinoma, Lobular);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);生殖细胞(Germ Cells);生殖细胞系突变(Germ-Line Mutation);系谱(Pedigree);表型(Phenotype);回顾性研究(Retrospective Studies);胃肿瘤(Stomach Neoplasms);突变, 误义(Mutation, Missense)
DOI
10.1016/S1470-2045(22)00643-X
PMID
36436516
发布时间
2023-02-15
- 浏览2
The Lancet. Oncology
The Lancet. Oncology
91-106页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
