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Journal of Applied Genetics 49(1), 2008, pp. 1-10

Aberrant epigenetic patterns in the etiology of gastrointestinal cancers

Pawel Karpinski, Maria M. Sasiadek, Nikolaus Blin

Abstract: A body of evidence accumulated over the past decade suggests that epigenetic mechanisms play an essential role in maintaining important cellular functions. Changes in epigenetic patterns (mainly DNA hyper- and hypomethylation and, more recently, histone modifications) may contribute to the development of cancer. Aberrant epigenetic events expand thorough tumor progression from the earliest to latest stages, therefore they can serve as convenient markers for detection and prognosis of cancer. The potential reversibility of epigenetic states in the tumor cell is an attractive target for cancer therapy. Much of our current knowledge on epigenetic alternations in cancer comes from studies on gastrointestinal malignancies, mainly on colorectal cancer, which currently serves as a model for epigenetic tumorigenesis. This review summarizes the current knowledge of epigenetic changes in gastrointestinal cancers and how this relates directly to disease progression and prognosis

Key words: CpG island methylator phenotype, DNA methylation, gastrointestinal cancer epigenetics, long-range epigenetic silencing.

Correspondence: P. Karpinski, Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland; e-mail:

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