Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
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Publication date
2016-04-01
Authors
Vogelaar, Ingrid P.
Ligtenberg, Marjolijn J L
van der Post, Rachel S.
de Voer, Richarda M.
Kets, C. Marleen
Jansen, Trees J G
Jacobs, Liesbeth
Schreibelt, Gerty
de Vries, I. Jolanda M
Netea, Mihai G.
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Article
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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.
Keywords
Candidaalbicans, Gastric cancer, Interleukin-17, MYD88, Th17 response, Cancer Research, Genetics, Oncology, Genetics(clinical), Journal Article, Research Support, Non-U.S. Gov't, Case Reports
Citation
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 & Van Krieken, J H J M 2016, 'Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect', Familial Cancer, vol. 15, no. 2, pp. 289-296. https://doi.org/10.1007/s10689-015-9859-z