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Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

  • Ingrid P. Vogelaar
  • , Marjolijn J. L. Ligtenberg
  • , Rachel S. van der Post
  • , Richarda M. de Voer
  • , C. Marleen Kets
  • , Trees J. G. Jansen
  • , Liesbeth Jacobs
  • , Gerty Schreibelt
  • , I. Jolanda M. de Vries
  • , Mihai G. Netea
  • , Nicoline Hoogerbrugge*
  • , Jan Lubinski
  • , Anna Jakubowska
  • , Urszula Teodorczyk
  • , Hans K. Schackert
  • , Cora M. Aalfs
  • , Encarna B. Gómez García
  • , Guglielmina N. Ranzani
  • , Valeria Molinaro
  • , Liselotte P. van Hest
  • Frederik J. Hes, Elke Holinski Feder, Maurizio Genuardi, Margreet G. E. M. Ausems, Rolf H. Sijmons, Anja Wagner, Lizet E. van der Kolk, Hugo Pinheiro, Carla Oliveira, Inga Bjørnevoll, Hildegunn Høberg Vetti, J. Han, J. M. van Krieken
*Corresponding author
  • Radboud University Nijmegen
  • Pomeranian Medical University in Szczecin
  • Technische Universität Dresden (TU Dresden)
  • Academic Medical Center
  • Maastricht University
  • University of Pavia
  • Location VUmc
  • Leiden University
  • University of Groningen
  • Erasmus Medical Center
  • Netherlands Cancer Institute
  • University of Porto
  • Universidade Do Porto
  • Norwegian University of Science and Technology
  • University of Bergen

Research output: Contribution to journal › Article

Abstract

Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
Original languageEnglish
Pages (from-to)289-296
Number of pages8
JournalFamilial Cancer
Volume15
Issue number2
DOIs
Publication statusPublished - 2016

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

Keywords

  • Adult
  • Cancer Research
  • Candida albicans
  • Candidaalbicans
  • Candidiasis
  • Female
  • Gastric cancer
  • Genetics
  • Genetics (clinical)
  • Helicobacter Infections
  • Homozygote
  • Humans
  • Interleukin-17
  • MYD88
  • Myeloid Differentiation Factor 88
  • Oncology
  • Stomach Neoplasms
  • Th17 response

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