title: Mismatch DNA repair mRNA expression profiles in oral melanin pigmentation lesion and hamartomatous polyp of a child with Peutz-Jeghers syndrome.
abstract: Mismatch DNA repair (MMR) mRNA expression analysis was performed on a biopsy of oral mucosa melanin pigmentation lesion, a hamartomatous polyp and peripheral blood derived from a 12-year-old child with Peutz-Jeghers Syndrome (PJS). We present a deficient MMR system, in a PJS patient, which demonstrated low mRNA levels of hMSH6 and hPMS2 and an increasing MMR deficiency from the non-dysplastic lesion to hamartomatous polyp of PJS with a high risk of cancer.
authors.affiliation: Department of Pathology, Medical School, University of Thessaly, Larissa, Greece. vagelidim@yahoo.gr
authors.forename: Dimitra P
authors.initials: DP
authors.lastname: Vageli
authors.forename: Sotirios G
authors.initials: SG
authors.lastname: Doukas
authors.forename: Andreas
authors.initials: A
authors.lastname: Markou
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D002648:Child; D053843:DNA Mismatch Repair; D045643:DNA Repair Enzymes / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008543:Melanins; D000070976:Mismatch Repair Endonuclease PMS2; D009055:Mouth / Q000473:pathology*; D009061:Mouth Mucosa / Q000378:metabolism / Q000473:pathology; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics*; D012880:Skin Pigmentation
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D008543:Melanins; D012333:RNA, Messenger; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D045643:DNA Repair Enzymes
keywords: Peutz-Jeghers Syndrome; Q-RT-reall time-PCR; hMLH1; hMSH2; hMSH6; hPMS2