Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Marlies J. E. Kempers; Roland P. Kuiper; Charlotte W. Ockeloen; Pierre O. Chappuis; Pierre Hutter; Nils Rahner; Hans K. Schackert; Verena Steinke; Elke Holinski-Feder; Monika Morak; Matthias Kloor; Reinhard Buettner; Eugene T. P. Verwiel; J. Han van Krieken; Iris D. Nagtegaal; Monique Goossens; Rachel S. van der Post; Renee C. Niessen; Rolf H. Sijmons; Irma Kluijt; Frans B. L. Hogervorst; Edward M. Leter; Johan J. P. Gille; Cora M. Aalfs; Egbert J. W. Redeker; Frederik J. Hes; Carli M. J. Tops; Bernadette P. M. van Nesselrooij; Marielle E. van Gijn; Encarna B. Gomez Garcia; Diana M. Eccles; David J. Bunyan; Sapna Syngal; Elena M. Stoffel; Julie O. Culver; Melanie R. Palomares; Tracy Graham; Lea Velsher; Janos Papp; Edith Olah; Tsun L. Chan; Suet Y. Leung; Ad Geurts van Kessel; Lambertus A. L. M. Kiemeney; Nicoline Hoogerbrugge; Marjolijn J. L. Ligtenberg

doi:10.1016/S1470-2045(10)70265-5

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Marlies J. E. Kempers, Roland P. Kuiper, Charlotte W. Ockeloen, Pierre O. Chappuis, Pierre Hutter, Nils Rahner, Hans K. Schackert, Verena Steinke, Elke Holinski-Feder, Monika Morak, Matthias Kloor, Reinhard Buettner, Eugene T. P. Verwiel, J. Han van Krieken, Iris D. Nagtegaal, Monique Goossens, Rachel S. van der Post, Renee C. Niessen, Rolf H. Sijmons, Irma KluijtFrans B. L. Hogervorst, Edward M. Leter, Johan J. P. Gille, Cora M. Aalfs, Egbert J. W. Redeker, Frederik J. Hes, Carli M. J. Tops, Bernadette P. M. van Nesselrooij, Marielle E. van Gijn, Encarna B. Gomez Garcia, Diana M. Eccles, David J. Bunyan, Sapna Syngal, Elena M. Stoffel, Julie O. Culver, Melanie R. Palomares, Tracy Graham, Lea Velsher, Janos Papp, Edith Olah, Tsun L. Chan, Suet Y. Leung, Ad Geurts van Kessel, Lambertus A. L. M. Kiemeney, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg^*

^*Corresponding author for this work

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

Abstract

Background lynch syndrome is caused by germline mutations in msh2, mlh1, msh6, and pms2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3' end deletions of epcam can cause lynch syndrome through epigenetic silencing of msh2 in epcam-expressing tissues, resulting in tissue-specific msh2 deficiency. We aim to establish the risk of cancer associated with such epcam deletions.

Original language	English
Pages (from-to)	49-55
Journal	Lancet oncology
Volume	12
Issue number	1
DOIs	https://doi.org/10.1016/S1470-2045(10)70265-5
Publication status	Published - Jan 2011

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10.1016/S1470-2045(10)70265-5

Cite this

Kempers, M. J. E., Kuiper, R. P., Ockeloen, C. W., Chappuis, P. O., Hutter, P., Rahner, N., Schackert, H. K., Steinke, V., Holinski-Feder, E., Morak, M., Kloor, M., Buettner, R., Verwiel, E. T. P., van Krieken, J. H., Nagtegaal, I. D., Goossens, M., van der Post, R. S., Niessen, R. C., Sijmons, R. H., ... Ligtenberg, M. J. L. (2011). Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet oncology, 12(1), 49-55. https://doi.org/10.1016/S1470-2045(10)70265-5

@article{cd4ee08e44b543449e29a35041a41506,

title = "Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study",

abstract = "Background lynch syndrome is caused by germline mutations in msh2, mlh1, msh6, and pms2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3' end deletions of epcam can cause lynch syndrome through epigenetic silencing of msh2 in epcam-expressing tissues, resulting in tissue-specific msh2 deficiency. We aim to establish the risk of cancer associated with such epcam deletions.",

author = "Kempers, {Marlies J. E.} and Kuiper, {Roland P.} and Ockeloen, {Charlotte W.} and Chappuis, {Pierre O.} and Pierre Hutter and Nils Rahner and Schackert, {Hans K.} and Verena Steinke and Elke Holinski-Feder and Monika Morak and Matthias Kloor and Reinhard Buettner and Verwiel, {Eugene T. P.} and {van Krieken}, {J. Han} and Nagtegaal, {Iris D.} and Monique Goossens and {van der Post}, {Rachel S.} and Niessen, {Renee C.} and Sijmons, {Rolf H.} and Irma Kluijt and Hogervorst, {Frans B. L.} and Leter, {Edward M.} and Gille, {Johan J. P.} and Aalfs, {Cora M.} and Redeker, {Egbert J. W.} and Hes, {Frederik J.} and Tops, {Carli M. J.} and {van Nesselrooij}, {Bernadette P. M.} and {van Gijn}, {Marielle E.} and Garcia, {Encarna B. Gomez} and Eccles, {Diana M.} and Bunyan, {David J.} and Sapna Syngal and Stoffel, {Elena M.} and Culver, {Julie O.} and Palomares, {Melanie R.} and Tracy Graham and Lea Velsher and Janos Papp and Edith Olah and Chan, {Tsun L.} and Leung, {Suet Y.} and {van Kessel}, {Ad Geurts} and Kiemeney, {Lambertus A. L. M.} and Nicoline Hoogerbrugge and Ligtenberg, {Marjolijn J. L.}",

year = "2011",

month = jan,

doi = "10.1016/S1470-2045(10)70265-5",

language = "English",

volume = "12",

pages = "49--55",

journal = "Lancet oncology",

issn = "1470-2045",

publisher = "The Lancet Publishing Group",

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Kempers, MJE, Kuiper, RP, Ockeloen, CW, Chappuis, PO, Hutter, P, Rahner, N, Schackert, HK, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buettner, R, Verwiel, ETP, van Krieken, JH, Nagtegaal, ID, Goossens, M, van der Post, RS, Niessen, RC, Sijmons, RH, Kluijt, I, Hogervorst, FBL, Leter, EM, Gille, JJP, Aalfs, CM, Redeker, EJW, Hes, FJ, Tops, CMJ, van Nesselrooij, BPM, van Gijn, ME, Garcia, EBG, Eccles, DM, Bunyan, DJ, Syngal, S, Stoffel, EM, Culver, JO, Palomares, MR, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, TL, Leung, SY, van Kessel, AG, Kiemeney, LALM, Hoogerbrugge, N & Ligtenberg, MJL 2011, 'Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study', Lancet oncology, vol. 12, no. 1, pp. 49-55. https://doi.org/10.1016/S1470-2045(10)70265-5

TY - JOUR

T1 - Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

AU - Kempers, Marlies J. E.

AU - Kuiper, Roland P.

AU - Ockeloen, Charlotte W.

AU - Chappuis, Pierre O.

AU - Hutter, Pierre

AU - Rahner, Nils

AU - Schackert, Hans K.

AU - Steinke, Verena

AU - Holinski-Feder, Elke

AU - Morak, Monika

AU - Kloor, Matthias

AU - Buettner, Reinhard

AU - Verwiel, Eugene T. P.

AU - van Krieken, J. Han

AU - Nagtegaal, Iris D.

AU - Goossens, Monique

AU - van der Post, Rachel S.

AU - Niessen, Renee C.

AU - Sijmons, Rolf H.

AU - Kluijt, Irma

AU - Hogervorst, Frans B. L.

AU - Leter, Edward M.

AU - Gille, Johan J. P.

AU - Aalfs, Cora M.

AU - Redeker, Egbert J. W.

AU - Hes, Frederik J.

AU - Tops, Carli M. J.

AU - van Nesselrooij, Bernadette P. M.

AU - van Gijn, Marielle E.

AU - Garcia, Encarna B. Gomez

AU - Eccles, Diana M.

AU - Bunyan, David J.

AU - Syngal, Sapna

AU - Stoffel, Elena M.

AU - Culver, Julie O.

AU - Palomares, Melanie R.

AU - Graham, Tracy

AU - Velsher, Lea

AU - Papp, Janos

AU - Olah, Edith

AU - Chan, Tsun L.

AU - Leung, Suet Y.

AU - van Kessel, Ad Geurts

AU - Kiemeney, Lambertus A. L. M.

AU - Hoogerbrugge, Nicoline

AU - Ligtenberg, Marjolijn J. L.

PY - 2011/1

Y1 - 2011/1

N2 - Background lynch syndrome is caused by germline mutations in msh2, mlh1, msh6, and pms2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3' end deletions of epcam can cause lynch syndrome through epigenetic silencing of msh2 in epcam-expressing tissues, resulting in tissue-specific msh2 deficiency. We aim to establish the risk of cancer associated with such epcam deletions.

AB - Background lynch syndrome is caused by germline mutations in msh2, mlh1, msh6, and pms2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3' end deletions of epcam can cause lynch syndrome through epigenetic silencing of msh2 in epcam-expressing tissues, resulting in tissue-specific msh2 deficiency. We aim to establish the risk of cancer associated with such epcam deletions.

U2 - 10.1016/S1470-2045(10)70265-5

DO - 10.1016/S1470-2045(10)70265-5

M3 - Article

SN - 1470-2045

VL - 12

SP - 49

EP - 55

JO - Lancet oncology

JF - Lancet oncology

IS - 1

ER -