Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

Autor: Khalid Mahmood, Chew E, Dagmara Dymerska, Roberts Aw, Mark Clendenning, Christoffer Flensburg, Nicoline Hoogerbrugge, Ben Kinnersley, Goldberg Y, Boris Noyvert, Jenny C. Taylor, Mathijs A. Sanders, van Wezel T, Lilian Vreede, Giulio Caravagna, Daniel D. Buchanan, Curley H, van der Biezen Sa, Richard S. Houlston, Celina Whalley, Michael Christie, Laura Chegwidden, Georgiou D, Judith E. Grolleman, Huw Thomas, Galavotti S, Sherwood K, Sottoriva A, Erik A. M. Jansen, Aleksandar Dimovski, Mark A. Jenkins, M.J.L. Ligtenberg, Roland P. Kuiper, Ian J. Majewski, Bajel A, Jakub Lubiński, Ian Tomlinson, Anna Frangou, Claire Palles, Pac Ca, Florentia Fostira, Deltas C, Clare Turnbull, Ingrid Winship, David N. Church, Lynn Martin, William Cross, Jürgen Weitz, David C. Wedge, Koelzer Vh, Rivas Ad, Barnes Ea, Nuria Lopez-Bigas, David J. Adams, van der Post Rs, Daniel Chubb, de Voer Rm, Trevor A. Graham, Andreas J. Gruber, Ponte Cr

Inherited defects in base-excision repair (BER) predispose to adenomatous polyposis and colorectal cancer (CRC), yet our understanding of this important DNA repair pathway remains incomplete. By combining detailed clinical, histological and molecular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0577ac58ac91b90d3d096b44b8aabcf
https://doi.org/10.1101/2021.04.27.441137

Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review.

Autor: van der Sluis L; Department of Gastroenterology, Radboud university medical centre, Nijmegen, The Netherlands.; Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands., van Dieren JM; Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands., van der Post RS; Department of Pathology, Radboud university medical centre, Nijmegen, The Netherlands., Bisseling TM; Department of Gastroenterology, Radboud university medical centre, Nijmegen, The Netherlands. tanya.bisseling@radboudumc.nl.

Publikováno v: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2024 Oct 08; Vol. 22 (1), pp. 21. Date of Electronic Publication: 2024 Oct 08.

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Autor: Hinić S; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., van der Post RS; Department of Pathology, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Vreede L; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Koene S; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Jansen EAM; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Bervoets-Metge F; Department of Pathology, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., Ligtenberg MJL; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands.; Department of Pathology, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands., de Voer RM; Department of Human Genetics, Radboud University Medical Center, Research Institute for Medical Innovation, Nijmegen, The Netherlands.

Publikováno v: JNCI cancer spectrum [JNCI Cancer Spectr] 2024 Jul 01; Vol. 8 (4).

Deficient mismatch repair screening of advanced adenomas in the population screening program for colorectal cancer is not effective.

Autor: Vink-Börger E; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Dabir PD; Institute of Pathology, Randers Regional Hospital, Randers, Denmark., Krekels J; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Kouwen MCA; Department of Gastroenterology and Hepatology, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ligtenberg MJL; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van der Post RS; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Nagtegaal ID; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Histopathology [Histopathology] 2024 May; Vol. 84 (6), pp. 1056-1060. Date of Electronic Publication: 2024 Jan 26.

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.