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Title: Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Author(s): Vogelaar, I.P.; Ligtenberg, M.J. ; Post, R.S. van der; Voer, R.M. de ; Kets, C.M. ; Jansen, T.J. ; Jacobs, L. ; Schreibelt, G. ; Vries, I.J. de ; Netea, M.G. ; Hoogerbrugge, N.
Publication year: 2016
Source: Familial Cancer, vol. 15, iss. 2, (2016), pp. 289-296
ISSN: 1389-9600
DOI: https://doi.org/10.1007/s10689-015-9859-z
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/171354   https://hdl.handle.net/2066/171354

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Subject: Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 2: Cancer development and immune defence RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences
Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Organization: Human Genetics
Pathology
Internal Medicine
Tumorimmunology
Medical Oncology
Journal title:
Familial Cancer
Volume: vol. 15
Issue: iss. 2
Page start: p. 289
Page end: p. 296
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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