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Article
Nature Medicine  4, 1276 - 1280 (1998)
doi:10.1038/3260

Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability

Hengmi Cui1, Isabelle L. Horon2, Rolf Ohlsson3, Stanley R. Hamilton4, 5 & Andrew P. Feinberg1, 5, 6

1  Department of Medicine, Johns Hopkins University School of Medicine, 1064 Ross, 720 Rutland Avenue, Baltimore , Maryland 21205, USA

2  Maryland Division of Health Statistics, 201 W. Preston St., Baltimore, Maryland 21201, USA

3  Department of Animal Development, University of Uppsala, Norbyvägen 18 A, 752 36 Uppsala, Sweden

4  Department of Pathology, Johns Hopkins University School of Medicine, 1064 Ross, 720 Rutland Avenue, Baltimore , Maryland 21205, USA

5  Department of Oncology, Johns Hopkins University School of Medicine, 1064 Ross, 720 Rutland Avenue, Baltimore , Maryland 21205, USA

6  Department of Molecular Biology & Genetics, Johns Hopkins University School of Medicine, 1064 Ross, 720 Rutland Avenue, Baltimore, Maryland 21205, USA

Correspondence should be addressed to Andrew P. Feinberg afeinberg@jhu.edu
Loss of imprinting (LOI) is an epigenetic alteration of some cancers involving loss of parental origin-specific expression of imprinted genes. We observed LOI of the insulin-like growth factor-II gene in twelve of twenty-seven informative colorectal cancer patients (44%), as well as in the matched normal colonic mucosa of the patients with LOI in their cancers, and in peripheral blood samples of four patients. Ten of eleven cancers (91%) with microsatellite instability showed LOI, compared with only two of sixteen tumors (12%) without microsatellite instability (P < 0.001). Control patients without cancer showed LOI in colonic mucosa of only two of sixteen cases (12%, P < 0.001) and two of fifteen blood samples (13%, P < 0.001). These data suggest that LOI in tumor and normal tissue identifies most colorectal cancer patients with microsatellite instability in their tumors, and that LOI may identify an important subset of the population with cancer or at risk of developing cancer.

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Nature Medicine
ISSN: 1078-8956
EISSN: 1546-170X
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