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, International Gastric Cancer Genetics Group

Research output: Contribution to journalArticleAcademicpeer-review

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 - 1 Apr 2016

Cite this

Vogelaar, I. P., Ligtenberg, M. J. L., van der Post, R. S., de Voer, R. M., Kets, C. M., Jansen, T. J. G., ... International Gastric Cancer Genetics Group (2016). Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect. Familial Cancer, 15(2), 289-296. https://doi.org/10.1007/s10689-015-9859-z