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Cancer genetics
Original research
Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Authors

  • Yasmin Soares de Lima Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Coral Arnau-Collell Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Jenifer Muñoz Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Cristina Herrera-Pariente Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Leticia Moreira Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Teresa Ocaña Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Marcos Díaz-Gay Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain Department of Cellular and Molecular Medicine, University of California San Diego (UCSD), San Diego, CA, USA PubMed articlesGoogle scholar articles
  • Sebastià Franch-Expósito Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA PubMed articlesGoogle scholar articles
  • Miriam Cuatrecasas Department of Pathology, Hospital Clinic de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd) and Tumor Bank-Biobank, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Sabela Carballal Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Anael Lopez-Novo Fundación Publica Galega de Medicina Xenómica (FPGMX), Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • Lorena Moreno Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Guerau Fernàndez Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Center for Biomedical Research Network on Rare Diseases (CIBERER), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Aranzazu Díaz de Bustamante Department of Genetics, Hospital Universitario de Mostoles, Mostoles, Spain PubMed articlesGoogle scholar articles
  • Sophia Peters Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Anna K Sommer Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Isabel Spier Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Iris B A W te Paske Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Yasmijn J van Herwaarden Department of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Antoni Castells Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Luis Bujanda Gastroenterology Department, Hospital Donostia-Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Basque Country University (UPV/EHU), San Sebastian, Spain PubMed articlesGoogle scholar articles
  • Gabriel Capellà Hereditary Cancer Program, Institute of Oncology, Oncobell, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), L'Hospitalet de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Verena Steinke-Lange Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany MGZ – Center of Medical Genetics Center, Munich, Germany PubMed articlesGoogle scholar articles
  • Khalid Mahmood Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia Melbourne Bioinformatics, The University of Melbourne, Carlton, Victoria, Australia PubMed articlesGoogle scholar articles
  • JiHoon Eric Joo Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Julie Arnold New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Susan Parry New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Finlay A Macrae Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Ingrid M Winship Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Christophe Rosty Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia Envoi Specialist Pathologists, Brisbane, Queensland, Australia University of Queensland, Brisbane, Queensland, Australia PubMed articlesGoogle scholar articles
  • Joaquin Cubiella Gastroenterology Department, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Sanitaria Galicia Sur, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Ourense, Spain PubMed articlesGoogle scholar articles
  • Daniel Rodríguez-Alcalde Digestive Disease Section, Hospital Universitario de Móstoles, Móstoles, Spain PubMed articlesGoogle scholar articles
  • Elke Holinski-Feder Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany MGZ – Center of Medical Genetics Center, Munich, Germany PubMed articlesGoogle scholar articles
  • Richarda de Voer Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Daniel D Buchanan Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia University of Melbourne Centre for Cancer Research, The University of Melbourne, Parkville, Victoria, Australia Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Stefan Aretz Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Clara Ruiz-Ponte Fundación Publica Galega de Medicina Xenómica (FPGMX), Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • Laura Valle Hereditary Cancer Program, Institute of Oncology, Oncobell, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), L'Hospitalet de Llobregat, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Francesc Balaguer Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Laia Bonjoch Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Sergi Castellvi-Bel Department of Gastroenterology, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Sergi Castellvi-Bel, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Rosselló 153, Barcelona, 08036, Spain; sbel{at}recerca.clinic.cat; Dr Laia Bonjoch, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Rosselló 153, Barcelona, Spain; bonjoch{at}recerca.clinic.cat
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Citation

Soares de Lima Y, Arnau-Collell C, Muñoz J, et al
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Journal of Medical Genetics 2023;60:557-567.

Publication history

  • Received May 6, 2022
  • Accepted September 27, 2022
  • First published October 21, 2022.
Online issue publication 
May 22, 2023

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.