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.

, , , ,,
Familial Cancer
Department of Clinical Genetics

Vogelaar, I. P., Ligtenberg, M., Van Der Post, R. S., de Voer, R. M., Kets, 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