Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Autor: Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. German.Demidov@med.uni-tuebingen.de.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany. German.Demidov@med.uni-tuebingen.de., Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Garcia-Pelaez J; i3S - Instituto de Investigação e Inovação em Saúde, Rua Alfredo Allen, 208, 4200-135, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Paramonov I; Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Johansson LF; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Musacchia F; Center for Human Technologies, Italian Institute of Technology (IIT), Genova, Italy.; Telethon Institute for Genetics and Medicine, 80078, Pozzuoli (Napoli), Italy., Benetti E; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100, Siena, Italy., Bullich G; Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Sablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania., Beltran S; Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany., de Voer R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Lohmann K; Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany., Oliveira C; i3S - Instituto de Investigação e Inovação em Saúde, Rua Alfredo Allen, 208, 4200-135, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal., Topf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Laurie S; Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain. steven.laurie@cnag.eu.; Universitat de Barcelona (UB), Barcelona, Spain. steven.laurie@cnag.eu.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 Oct 26; Vol. 9 (1), pp. 49. Date of Electronic Publication: 2024 Oct 26.

Gastric Polyps in Familial Adenomatous Polyposis Portuguese Patients: The First Western Cohort with Asian Features.

Autor: Baptista D; Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal, diana.a.baptista1@gmail.com., Fernandes M; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal., Garrido M; Department of Gastroenterology, Portuguese Oncology Institute of Porto, Porto, Portugal., Sousa F; Department of General Surgery, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal., Morais R; Department of Gastroenterology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal., Garcia-Pelaez J; i3S - Instituto de Investigação e Inovação em Saúde and Institute of Molecular Pathology and Immunology, University of Porto (Ipatimup), Porto, Portugal., Silva R; Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal.; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal., Leitão D; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal., Baptista M; Department of General Surgery, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal., Barbosa J; Department of General Surgery, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal., Carneiro F; Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal.; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal.; i3S - Instituto de Investigação e Inovação em Saúde and Institute of Molecular Pathology and Immunology, University of Porto (Ipatimup), Porto, Portugal., Gullo I; Department of Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal.; Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal.; i3S - Instituto de Investigação e Inovação em Saúde and Institute of Molecular Pathology and Immunology, University of Porto (Ipatimup), Porto, Portugal.

Publikováno v: Pathobiology : journal of immunopathology, molecular and cellular biology [Pathobiology] 2024; Vol. 91 (3), pp. 196-204. Date of Electronic Publication: 2023 Oct 18.

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

Autor: te Paske, I.B.A.W., Garcia-Pelaez, J., Sommer, A.K., Matalonga, L., Starzynska, T., Jakubowska, A., Valle, L., Capella, G., Aretz, S., Holinski-Feder, E., Steinke-Lange, V., Laner, A., Schröck, E., Rump, A., Ligtenberg, M., Hoischen, A., Geverink, N., Evans, D.G., Tischkowitz, M., Laurie, S., van der Post, R.S., Lubinski, J., Oliveira, C., Hoogerbrugge, N., de Voer, R.M.

Publikováno v: European Journal of Human Genetics, 29, 1354-1358
te Paske, I B A W, Garcia-Pelaez, J, Sommer, A K, Matalonga, L, Starzynska, T, Jakubowska, A, Valle, L, Capella, G, Aretz, S, Holinski-Feder, E, Steinke-Lange, V, Laner, A, Schröck, E, Rump, A, Ligtenberg, M, Hoischen, A, Geverink, N, Evans, D G, Tischkowitz, M, Laurie, S, van der Post, R S, Lubinski, J, Oliveira, C, Hoogerbrugge, N & de Voer, R M 2021, ' A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1354-1358 . https://doi.org/10.1038/s41431-021-00853-6
European Journal of Human Genetics
European Journal of Human Genetics, 29, 9, pp. 1354-1358

Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing gen

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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.

Autor: Garcia-Pelaez J; 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., Barbosa-Matos R; 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., Lobo S; 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., Dias A; 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., Garrido L; Centro Hospitalar Universitário São João, Porto, Portugal., Castedo S; 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., Sousa S; 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., Pinheiro H; 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., Sousa L; 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., Monteiro R; 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., Maqueda JJ; 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., Fernandes S; Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal., Carneiro F; 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., Pinto N; 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., Lemos C; 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., Pinto C; Department of Laboratory Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal., Teixeira MR; 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., Aretz S; 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., Bajalica-Lagercrantz S; 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., Balmaña J; Hospital Vall d'Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain; ERN GENTURIS, Barcelona, Spain., Blatnik A; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia; ERN GENTURIS, Ljubljana, Slovenia., Benusiglio PR; Medical Genetics Department, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Paris, France., Blanluet M; Service de Génétique Oncologique, Institut Curie, Paris, France., Bours V; Laboratory of Human Genetics, GIGA Institute, University of Liège, Liège, Belgium; Center of Genetics, University Hospital, Liège, Belgium; ERN GENTURIS, Liège, Belgium., Brems H; Department of Human Genetics, University of Leuven, Leuven, Belgium., Brunet J; Hereditary Cancer Programme, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research and Girona Biomedical Research Institute, Barcelona-Girona, Spain; ERN GENTURIS, Barcelona, Spain., Calistri D; Laboratorio di Bioscienze, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Capellá G; 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., Carrera S; Oncology Service, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain., Colas C; Service de Génétique Oncologique, Institut Curie, Paris, France; ERN GENTURIS, Paris, France., Dahan K; Center of Human Genetics, IPG, Gosselies, Belgium., de Putter R; Clinical Genetics Department, University Hospital of Ghent, Ghent, Belgium; ERN GENTURIS, Ghent, Belgium., Desseignés C; Medical Genetics Department, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Paris, France., Domínguez-Garrido E; Molecular Diagnostics Laboratory, Fundación Rioja Salud, Logroño, Spain., Egas C; CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal., Evans DG; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester, UK., Feret D; Center of Human Genetics, IPG, Gosselies, Belgium., Fewings E; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Fitzgerald RC; Early Cancer Institute, University of Cambridge, Cambridge, UK., Coulet F; Medical Genetics Department, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne University, Paris, France., Garcia-Barcina M; Genetics Unit, Biocruces Bizkaia Health Research Institute, Basurto University Hospital, Bilbao, Bizkaia, Spain., Genuardi M; 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., Golmard L; Service de Génétique Oncologique, Institut Curie, Paris, France., Hackmann K; 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., Hanson H; SouthWest Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK., Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; Medizinisch Genetisches Zentrum, Munich, Germany; ERN GENTURIS, Munich, Germany., Hüneburg R; 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., Krajc M; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia; ERN GENTURIS, Ljubljana, Slovenia., Lagerstedt-Robinson K; 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., Lázaro C; 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., Ligtenberg MJL; 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., Martínez-Bouzas C; Genetics Service, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain., Merino S; Genetics Unit, Biocruces Bizkaia Health Research Institute, Basurto University Hospital, Bilbao, Bizkaia, Spain., Michils G; Department of Human Genetics, University of Leuven, Leuven, Belgium., Novaković S; Department of Molecular Diagnostics, Institute of Oncology Ljubljana, Ljubljana, Slovenia., Patiño-García A; 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., Ranzani GN; Department of Biology and Biotechnology, University of Pavia, Pavia, Italy., Schröck E; 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., Silva I; GenoMed-Diagnósticos de Medicina Molecular, Lisbon, Portugal., Silveira C; GenoMed-Diagnósticos de Medicina Molecular, Lisbon, Portugal., Soto JL; Molecular Genetics Laboratory, Elche University Hospital, Elche, Spain., Spier I; 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., Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; Medizinisch Genetisches Zentrum, Munich, Germany; ERN GENTURIS, Munich, Germany., Tedaldi G; Laboratorio di Bioscienze, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy., Tejada MI; Genetics Service, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Cruces-Barakaldo, Bizkaia, Spain., Woodward ER; Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester, UK., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Hoogerbrugge N; 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., Oliveira C; 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.

Publikováno v: The Lancet. Oncology [Lancet Oncol] 2023 Jan; Vol. 24 (1), pp. 91-106. Date of Electronic Publication: 2022 Nov 24.