title: Frequent loss of imprinting of PEG1/MEST in invasive breast cancer.
abstract: 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.
authors.affiliation: Department of Pathology, Biotechnology Centre, University College Dublin, Belfield, Ireland.
authors.forename: I S
authors.initials: IS
authors.lastname: Pedersen
authors.forename: P A
authors.initials: PA
authors.lastname: Dervan
authors.forename: D
authors.initials: D
authors.lastname: Broderick
authors.forename: M
authors.initials: M
authors.lastname: Harrison
authors.forename: N
authors.initials: N
authors.lastname: Miller
authors.forename: E
authors.initials: E
authors.lastname: Delany
authors.forename: D
authors.initials: D
authors.lastname: O'Shea
authors.forename: P
authors.initials: P
authors.lastname: Costello
authors.forename: A
authors.initials: A
authors.lastname: McGoldrick
authors.forename: G
authors.initials: G
authors.lastname: Keating
authors.forename: B
authors.initials: B
authors.lastname: Tobin
authors.forename: T
authors.initials: T
authors.lastname: Gorey
authors.forename: A
authors.initials: A
authors.lastname: McCann
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018507:Gene Expression Regulation, Developmental; D015972:Gene Expression Regulation, Neoplastic; D018392:Genomic Imprinting; D006801:Humans; D019656:Loss of Heterozygosity; D015233:Models, Statistical; D009361:Neoplasm Invasiveness / Q000235:genetics; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D011506:Proteins; D012333:RNA, Messenger; C103637:mesoderm specific transcript protein