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 HestFrederik 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

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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.

Lingua originale	Inglese
pagine (da-a)	289-296
Numero di pagine	8
Rivista	Familial Cancer
Volume	15
Numero di pubblicazione	2
DOI	https://doi.org/10.1007/s10689-015-9859-z
Stato di pubblicazione	Pubblicato - 2016

All Science Journal Classification (ASJC) codes

Genetica
Oncologia
Genetica (clinica)
Ricerca sul Cancro

Keywords

Adult
Cancer Research
Candida albicans
Candidaalbicans
Candidiasis
Female
Gastric cancer
Genetics
Genetics (clinical)
Helicobacter Infections
Homozygote
Humans
Interleukin-17
MYD88
Myeloid Differentiation Factor 88
Oncology
Stomach Neoplasms
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. 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

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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 = "Adult, Cancer Research, Candida albicans, Candidaalbicans, Candidiasis, Female, Gastric cancer, Genetics, Genetics (clinical), Helicobacter Infections, Homozygote, Humans, Interleukin-17, MYD88, Myeloid Differentiation Factor 88, Oncology, Stomach Neoplasms, Th17 response, Adult, Cancer Research, Candida albicans, Candidaalbicans, Candidiasis, Female, Gastric cancer, Genetics, Genetics (clinical), Helicobacter Infections, Homozygote, Humans, Interleukin-17, MYD88, Myeloid Differentiation Factor 88, Oncology, Stomach Neoplasms, 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 \{Holinski Feder\}, Elke 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 J. Han and \{van Krieken\}, \{J. M.\}",

year = "2016",

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

language = "English",

volume = "15",

pages = "289--296",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer Science and Business Media B.V.",

number = "2",

}

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, Han, J & van Krieken, JM 2016, 'Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect', Familial Cancer, vol. 15, n. 2, pagg. 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 - Han, J.

AU - van Krieken, J. M.

PY - 2016

Y1 - 2016

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 - Adult

KW - Cancer Research

KW - Candida albicans

KW - Candidaalbicans

KW - Candidiasis

KW - Female

KW - Gastric cancer

KW - Genetics

KW - Genetics (clinical)

KW - Helicobacter Infections

KW - Homozygote

KW - Humans

KW - Interleukin-17

KW - MYD88

KW - Myeloid Differentiation Factor 88

KW - Oncology

KW - Stomach Neoplasms

KW - Th17 response

KW - Adult

KW - Cancer Research

KW - Candida albicans

KW - Candidaalbicans

KW - Candidiasis

KW - Female

KW - Gastric cancer

KW - Genetics

KW - Genetics (clinical)

KW - Helicobacter Infections

KW - Homozygote

KW - Humans

KW - Interleukin-17

KW - MYD88

KW - Myeloid Differentiation Factor 88

KW - Oncology

KW - Stomach Neoplasms

KW - Th17 response

UR - https://publicatt.unicatt.it/handle/10807/93651

UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84951853036&origin=inward

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84951853036&origin=inward

U2 - 10.1007/s10689-015-9859-z

DO - 10.1007/s10689-015-9859-z

M3 - Article

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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