title: A MboII polymorphism in exon 11 of the human MDM2 gene occuring in normal blood donors and in soft tissue sarcoma patients: an indication for an increased cancer susceptibility?
abstract: The human MDM2 oncogene, well known as the tumor suppressor gene p53's partner, plays an important role in tumorigenesis whether it is dependent on or independent of TP53. In this study, we investigated in a PCR-sequencing analysis the exon 11 of the human MDM2 gene for gene alterations. A MboII polymorphism occurs in 8% of normal blood donors (8 out of 100 probands) and in 13% of the soft tissue sarcoma patients (11 out of 82 patients). Of note was that two STS patients carried the gene alteration only in the tumor specimens heterozygously but not in normal tissue. In a Kaplan-Meier analysis, patients without the polymorphism, indicated a median survival rate of 57 months, whereas, patients with the polymorphism survived on average only 38 months. We suggest that this polymorphism might be associated with an increased cancer susceptibility.
authors.affiliation: Institute of Pathology, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 14, D-06097 Halle/Saale, Germany. helge.taubert@medizin.uni-halle.de
authors.forename: H
authors.initials: H
authors.lastname: Taubert
authors.forename: M
authors.initials: M
authors.lastname: Kappler
authors.forename: A
authors.initials: A
authors.lastname: Meye
authors.forename: F
authors.initials: F
authors.lastname: Bartel
authors.forename: T
authors.initials: T
authors.lastname: Schlott
authors.forename: C
authors.initials: C
authors.lastname: Lautenschläger
authors.forename: M
authors.initials: M
authors.lastname: Bache
authors.forename: H
authors.initials: H
authors.lastname: Schmidt
authors.forename: P
authors.initials: P
authors.lastname: Würl
mesh_terms: D001483:Base Sequence; D001782:Blood Donors; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D016158:Genes, p53; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D009857:Oncogenes; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051736:Proto-Oncogene Proteins c-mdm2; D012509:Sarcoma / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C024413:endodeoxyribonuclease MboII; D015252:Deoxyribonucleases, Type II Site-Specific