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Department of Pathology, Biotechnology Centre, University College Dublin, Belfield, Dublin 4 [I. S. P., P. A. D., D. B., E. D., P. C., A. McG., A. McC.]; Departments of Histopathology [P. A. D., M. H., G. K., B. T.] and Surgery [T. G.], Mater Hospital, Dublin 7; National Centre for Medical Genetics, Crumlin, Dublin 12 [N. M.]; and Bio Research Ireland, Biotechnology Centre, University College Dublin, Belfield, Dublin 4 [D. O.], Ireland
The human PEG1 gene is a newly identified imprinted gene on 7q32. Genetic aberrations of this chromosomal region are often detected in invasive breast carcinomas. In this study, we show monoallelic PEG1 expression in normal breast tissue, indicating the presence of a functional imprint, and more importantly, we demonstrate loss of imprinting (LOI) in all of seven informative invasive breast carcinomas. In contrast to this, in one case of atypical ductal hyperplasia (ADH) found in residual breast, imprinting was maintained. This raises the possibility that aberrant imprinting of PEG1 may be involved in the progression from hyperplasia to invasive breast cancer.
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