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.
Vogelaar, I. P., Ligtenberg, M. J. L., Van Der Post, R. S., De Voer, R. M., Kets, C. M., Jansen, T. J. G., Jacobs, L., Schreibelt, G., De Vries, I. J. M., Netea, M. G., Hoogerbrugge, N., Lubinski, J., Jakubowska, A., Teodorczyk, U., Schackert, H. K., Aalfs, C. M., Gómez García, E. B., Ranzani, G. N., Molinaro, V., Van Hest, L. P., Hes, F. J., Holinski Feder, E., Genuardi, M., Ausems, M. G. E. M., Sijmons, R. H., Wagner, A., Van Der Kolk, L. E., Pinheiro, H., Oliveira, C., Bjørnevoll, I., Høberg Vetti, H., Han, J., Van Krieken, J. M., Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect, <<FAMILIAL CANCER>>, 2016; 15 (2): 289-296. [doi:10.1007/s10689-015-9859-z] [http://hdl.handle.net/10807/93651]
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Genuardi, Maurizio;
2016
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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Tipologia file ?:
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