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

MJ Ligtenberg, RS van der Post, RM de Voer, CM Kets, TJ Jansen, L Jacobs, G Schreibelt, J International Gastric Cancer Genetics Group (Lubinski, A Jakubowska, U Teodorczyk, HK Schackert, CM Aalfs, Maurizio Genuardi, EB Gómez García, GN Ranzani, V Molinaro, LP van Hest, FJ Hes, E Holinski-Feder, MG AusemsRH Sijmons, A Wagner, LE van der Kolk, H Pinheiro, C Oliveira, I Bjørnevoll, HH Vetti, J van Krieken, de Vries, IJ, MG Netea, N Hoogerbrugge*

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo

9 Citazioni (Scopus)

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.
Lingua originaleInglese
pagine (da-a)289-296
Numero di pagine8
RivistaFamilial Cancer
Volume2016
Numero di pubblicazione15
DOI
Stato di pubblicazionePubblicato - 2017

All Science Journal Classification (ASJC) codes

  • Genetica
  • Oncologia
  • Genetica (clinica)
  • Ricerca sul Cancro

Keywords

  • cancer

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