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

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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.

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Vogelaar, I. P., Ligtenberg, M. J. L., 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. https://doi.org/10.1007/s10689-015-9859-z

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