Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Autor: Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK. djgm@soton.ac.uk., Gazdagh G; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Monk D; Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK., Brioude F; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Giabicani E; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Krzyzewska IM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kalish JM; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Departments of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Beygo J; Institut Für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kahre T; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy., Davies JH; Faculty of Medicine, University of Southampton, Southampton, UK.; Regional Centre for Paediatric Endocrinology, Faculty of Medicine, Southampton Children's Hospital, University of Southampton, Southampton, UK., Ferrero GB; Department of Clinical and Biological Science, School of Medicine, Centre for Hemoglobinopathies, AOU San Luigi Gonzaga, University of Turin, Turin, Italy., Fjodorova O; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Manero-Azua A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Pereda A; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Russo S; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Tannorella P; IRCCS Research Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy., Temple KI; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB),'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy., de Nanclares GP; Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain., Maher ER; Aston Medical School, Aston University, Birmingham, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain., Netchine I; Centre de Recherche Saint Antoine, Endocrinologie Moléculaire et Pathologies d'empreinte, INSERMSorbonne Université, Hôpital Armand TrousseauAPHP, 75012, Paris, France., Eggermann T; Institute for Human Genetics and Genome Medicine. Faculty of Medicine, RWTH University Aachen, Aachen, Germany., Bliek J; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Clinical epigenetics [Clin Epigenetics] 2024 Aug 01; Vol. 16 (1), pp. 99. Date of Electronic Publication: 2024 Aug 01.

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.

Autor: Hinić S; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Cybulski C; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands., Van der Post RS; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Pathology, Nijmegen, The Netherlands., Vos JR; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands., Schuurs-Hoeijmakers J; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Brugnoletti F; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands; Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy., Koene S; Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands., Vreede L; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., van Zelst-Stams WAG; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Kets CM; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Haadsma M; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Spruijt L; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Wevers MR; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Evans DG; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; The University of Manchester, Genomic Medicine, Division of Evolution, Infection and Genomic Sciences, Manchester, United Kingdom., Wimmer K; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schnaiter S; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Volk AE; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Möllring A; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., de Putter R; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Soikkonen L; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Oulu University Hospital, Department of Clinical Genetics, Oulu, Finland., Kahre T; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Genetics and Personalized Medicine Clinic, Department of Laboratory Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Tooming M; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Genetics and Personalized Medicine Clinic, Department of Laboratory Genetics, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., de Jong MM; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Vaz F; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Instituto Português Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal., Mensenkamp AR; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands., Genuardi M; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Lubinski J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands., Ligtenberg M; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Pathology, Nijmegen, The Netherlands., Hoogerbrugge N; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands., de Voer RM; Radboud University Medical Center, Research Institute for Medical Innovation, Department of Human Genetics, Nijmegen, The Netherlands; European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, The Netherlands. Electronic address: richarda.devoer@radboudumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101101. Date of Electronic Publication: 2024 Feb 13.

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AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Autor: Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Hyldebrandt HK; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Stormorken AT; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Nordgarden H; Norwegian National Resource Centre for Oral Health in Rare Diagnosis, Lovisenberg Diaconal Hospital, Oslo, Norway., Sijmons RH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Bos DK; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Riegert-Johnson D; Department of Clinical Genetics and Genomics, Mayo Clinic, Jacksonville, Florida, USA., Mantia-Macklin S; Department of Clinical Genetics and Genomics, Mayo Clinic, Jacksonville, Florida, USA., Ilves P; Department of Radiology, Tartu University Hospital, Tartu, Estonia., Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Wojcik MH; Broad Institute of MIT and Harvard, Massachusetts, Cambridge, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kahre T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2157. Date of Electronic Publication: 2023 Mar 01.

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Autor: Roht L; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Tooming M; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Rekker K; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Roomere H; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Toome K; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Murumets Ü; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Šamarina U; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Kahre T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Nov 08; Vol. 13, pp. 1020543. Date of Electronic Publication: 2022 Nov 08 (Print Publication: 2022).