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 journalArticleAcademicpeer-review


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 languageEnglish
Pages (from-to)49-55
JournalLancet oncology
Issue number1
Publication statusPublished - Jan 2011

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