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Open Access 01-04-2016 | Original Article

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

Authors: Ingrid P. Vogelaar, Marjolijn J. L. Ligtenberg, Rachel S. van der Post, Richarda M. de Voer, C. Marleen Kets, Trees J. G. Jansen, Liesbeth Jacobs, Gerty Schreibelt, I. Jolanda M. de Vries, Mihai G. Netea, Nicoline Hoogerbrugge, International Gastric Cancer Genetics Group

Published in: Familial Cancer | Issue 2/2016

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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Title: Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
Authors: Ingrid P. Vogelaar
Marjolijn J. L. Ligtenberg
Rachel S. van der Post
Richarda M. de Voer
C. Marleen Kets
Trees J. G. Jansen
Liesbeth Jacobs
Gerty Schreibelt
I. Jolanda M. de Vries
Mihai G. Netea
Nicoline Hoogerbrugge
International Gastric Cancer Genetics Group
Publication date: 01-04-2016
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2016
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-015-9859-z

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