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

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Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
 
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.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez García, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G E M; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjørnevoll, Inga; Høberg Vetti, Hildegunn; Van Krieken, J. Han J M
(2016) Familial Cancer, volume 15, issue 2, pp. 289 - 296
(Article)
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 ... read more
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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
DOI: https://doi.org/10.1007/s10689-015-9859-z
ISSN: 1389-9600
Publisher: Springer Netherlands
(Peer reviewed)