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

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; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Hans K. Schackert; Cora M. Aalfs; Encarna B. Gómez García; Guglielmina N. Ranzani; Valeria Molinaro; Liselotte P. van Hest; Frederik J. Hes; Elke Holinski-Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H. Sijmons; Anja Wagner; Lizet E. van der Kolk; Hugo Pinheiro; Carla Oliveira; Inga Bjørnevoll; Hildegunn Høberg Vetti; J. Han J M Van Krieken

doi:10.1007/s10689-015-9859-z

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

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^*
, Jan Lubinski
, Anna Jakubowska
, Urszula Teodorczyk
, Hans K. Schackert
, Cora M. Aalfs
, Encarna B. Gómez García
, Guglielmina N. Ranzani
, Valeria Molinaro
, Liselotte P. van Hest

Frederik J. Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H. Sijmons, Anja Wagner, Lizet E. van der Kolk, Hugo Pinheiro, Carla Oliveira, Inga Bjørnevoll, Hildegunn Høberg Vetti, J. Han J M Van Krieken

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	289-296
Number of pages	8
Journal	Familial Cancer
Volume	15
Issue number	2
DOIs	https://doi.org/10.1007/s10689-015-9859-z
Publication status	Published - 1 Apr 2016

Keywords

Candidaalbicans
Gastric cancer
Interleukin-17
MYD88
Th17 response

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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 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, 15(2), 289-296. https://doi.org/10.1007/s10689-015-9859-z

@article{a3a7f93e15a34a2f97770d0858920784,

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

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",

author = "Vogelaar, \{Ingrid P.\} and Ligtenberg, \{Marjolijn J L\} and \{van der Post\}, \{Rachel S.\} and \{de Voer\}, \{Richarda M.\} and Kets, \{C. Marleen\} and Jansen, \{Trees J G\} and Liesbeth Jacobs and Gerty Schreibelt and \{de Vries\}, \{I. Jolanda M\} and Netea, \{Mihai G.\} and Nicoline Hoogerbrugge and Jan Lubinski and Anna Jakubowska and Urszula Teodorczyk and Schackert, \{Hans K.\} and Aalfs, \{Cora M.\} and \{G{\'o}mez Garc{\'i}a\}, \{Encarna B.\} and Ranzani, \{Guglielmina N.\} and Valeria Molinaro and \{van Hest\}, \{Liselotte P.\} and Hes, \{Frederik J.\} and Elke Holinski-Feder and Maurizio Genuardi and Ausems, \{Margreet G E M\} and Sijmons, \{Rolf H.\} and Anja Wagner and \{van der Kolk\}, \{Lizet E.\} and Hugo Pinheiro and Carla Oliveira and Inga Bj{\o}rnevoll and \{H{\o}berg Vetti\}, Hildegunn and \{Van Krieken\}, \{J. Han J M\}",

year = "2016",

month = apr,

day = "1",

doi = "10.1007/s10689-015-9859-z",

language = "English",

volume = "15",

pages = "289--296",

journal = "Familial Cancer",

issn = "1389-9600",

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number = "2",

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Vogelaar, IP, Ligtenberg, MJL, van der Post, RS, de Voer, RM, Kets, CM, Jansen, TJG, Jacobs, L, Schreibelt, G, de Vries, IJM, Netea, MG, Hoogerbrugge, N, Lubinski, J, Jakubowska, A, Teodorczyk, U, Schackert, HK, Aalfs, CM, Gómez García, EB, Ranzani, GN, Molinaro, V, van Hest, LP, Hes, FJ, Holinski-Feder, E, Genuardi, M, Ausems, MGEM, Sijmons, RH, Wagner, A, van der Kolk, LE, Pinheiro, H, Oliveira, C, Bjørnevoll, I, Høberg Vetti, H & Van Krieken, JHJM 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

TY - JOUR

T1 - Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

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 - Van Krieken, J. Han 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 - https://www.scopus.com/pages/publications/84951853036

U2 - 10.1007/s10689-015-9859-z

DO - 10.1007/s10689-015-9859-z

M3 - Article

C2 - 26700889

AN - SCOPUS:84951853036

SN - 1389-9600

VL - 15

SP - 289

EP - 296

JO - Familial Cancer

JF - Familial Cancer

IS - 2

ER -

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

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