TY - JOUR
T1 - Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
AU - International Gastric Cancer Genetics Group
AU - Vogelaar, Ingrid P.
AU - Ligtenberg, Marjolijn J.L.
AU - van der Post, Rachel S.
AU - de Voer, Richarda M.
AU - Kets, C. Marleen
AU - Jansen, Trees J.G.
AU - Jacobs, Liesbeth
AU - Schreibelt, Gerty
AU - de Vries, I. Jolanda M.
AU - Netea, Mihai G.
AU - Hoogerbrugge, Nicoline
AU - Lubinski, Jan
AU - Jakubowska, Anna
AU - Teodorczyk, Urszula
AU - Schackert, Hans K.
AU - Aalfs, Cora M.
AU - Gómez García, Encarna B.
AU - Ranzani, Guglielmina N.
AU - Molinaro, Valeria
AU - van Hest, Liselotte P.
AU - Hes, Frederik J.
AU - Holinski-Feder, Elke
AU - Genuardi, Maurizio
AU - Ausems, Margreet G.E.M.
AU - Sijmons, Rolf H.
AU - Wagner, Anja
AU - van der Kolk, Lizet E.
AU - Pinheiro, Hugo
AU - Oliveira, Carla
AU - Bjørnevoll, Inga
AU - Høberg Vetti, Hildegunn
AU - Han, J.
AU - van Krieken, J. M.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - 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.
AB - 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.
KW - Candidaalbicans
KW - Gastric cancer
KW - Interleukin-17
KW - MYD88
KW - Th17 response
UR - http://www.scopus.com/inward/record.url?scp=84951853036&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s10689-015-9859-z
DO - https://doi.org/10.1007/s10689-015-9859-z
M3 - Article
C2 - 26700889
SN - 1389-9600
VL - 15
SP - 289
EP - 296
JO - Familial Cancer
JF - Familial Cancer
IS - 2
ER -