ArticleJournal of medical genetics2023
Germline mutations in
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Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 30% of its field
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Knowledge gaps in tubular gut tumours: a critical appraisal of the 6th edition of the World Health Organization classification of tumours.The Journal of pathology · 2026Review
- Serrated Polyposis Syndrome: A Narrative Review from Clinical Recognition to Risk-Adapted Cancer Prevention.International journal of general medicine · 2026Review
- Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.International journal of cancer · 2025Article
- Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023Article
- Chemoprophylaxis of precancerous lesions in patients who are at a high risk of developing colorectal cancer (Review).Medicine internationalReview
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Authors and funding
41 authors at 15 institutions in 6 countries.
Yasmin Soares de LimaDepartment 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.
Coral Arnau-CollellDepartment 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.
Jenifer MuñozDepartment 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.
Cristina Herrera-ParienteDepartment 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.
Leticia MoreiraDepartment 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.
Teresa OcañaDepartment 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.
Marcos Díaz-GayDepartment 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.
Sebastià Franch-ExpósitoDepartment 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.
Miriam CuatrecasasDepartment 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.
Sabela CarballalDepartment 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.
Anael Lopez-NovoFundación 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.
Lorena MorenoDepartment 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.
Guerau FernàndezDepartment 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.
Aranzazu Díaz de BustamanteDepartment of Genetics, Hospital Universitario de Mostoles, Mostoles, Spain.
Sophia PetersInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Anna K SommerInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Isabel SpierInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.ORCID 0000-0003-2407-7427
Iris B A W Te PaskeDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Yasmijn J van HerwaardenDepartment of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Antoni CastellsDepartment 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.
Luis BujandaGastroenterology 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.
Gabriel CapellàHereditary 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.
Verena Steinke-LangeMedizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
Khalid MahmoodColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.
JiHoon Eric JooColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.
Julie ArnoldNew Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
Susan ParryNew Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
Finlay A MacraeColorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia.
Ingrid M WinshipGenomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.
Christophe RostyColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.
Joaquin CubiellaGastroenterology 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.
Daniel Rodríguez-AlcaldeDigestive Disease Section, Hospital Universitario de Móstoles, Móstoles, Spain.
Elke Holinski-FederMedizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.
Richarda de VoerDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-8222-0343
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia.ORCID 0000-0003-2225-6675
Stefan AretzInstitute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.
Clara Ruiz-PonteFundación 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.
Laura ValleHereditary 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.
Francesc BalaguerDepartment 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.
Laia BonjochDepartment 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 sbel@recerca.clinic.cat bonjoch@recerca.clinic.cat.
Sergi Castellvi-BelDepartment 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 sbel@recerca.clinic.cat bonjoch@recerca.clinic.cat.ORCID 0000-0003-1217-5097
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESUniversity of Bonn · DECentre for Biomedical Network Research on Rare Diseases · ESRadboud University Nijmegen · NLThe Royal Melbourne Hospital · AUCancer Society of New Zealand · NZHospital Universitario de Móstoles · ESInstitut d'Investigació Biomédica de Bellvitge · ESLMU Klinikum · DEThe University of Melbourne · AUBiogipuzkoa Health Research Institute · ESHospital Clínic de Barcelona · ESMemorial Sloan Kettering Cancer Center · USThe University of Queensland · AUUniversity of California San Diego · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MNCI NIH HHS P30 CA008748
Abstract
backgroundPatients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts.
methodsAfter a previous whole-exome sequencing in 39 SPS patients from 16 families (discovery cohort), we sequenced specific genes in an independent validation cohort of 211 unrelated SPS cases. Additional external replication was also available in 297 SPS cases. The
resultsWe identified 2 rare germline variants in the
conclusionAfter whole-exome sequencing in SPS cases with familial aggregation and replication of results in additional cohorts, we identified rare germline variants in the
Indexed as
Adenomatous Polyposis ColiColonic PolypsColorectal NeoplasmsGenotypeGerm-Line MutationHumansProtein Serine-Threonine KinasesProtein Serine-Threonine KinasesWNK2 protein, humanDigestive System DiseaseGastroenterologyGene EditingGenetic Predisposition to DiseaseLoss of Function Mutation
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What OpenQuestion holds
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.