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.

Candidaalbicans, Gastric cancer, Interleukin-17, MYD88, Th17 response
dx.doi.org/10.1007/s10689-015-9859-z, hdl.handle.net/1765/84328
Familial Cancer
Department of Clinical Genetics

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