title: Absence of significant germ line p53 mutations in ovarian cancer patients.
abstract: Germ line mutations of the p53 gene have been described in the Li-Fraumeni Cancer Family Syndrome and occur in patients with multifocal gliomas, particularly those with a history of a metachronous cancer or a family history of cancer. p53 dysfunction is often associated with ovarian cancer. Patients with ovarian carcinoma frequently develop synchronous or metachronous cancers and may have a family history of this or related cancers. Thus, we hypothesized that germ line p53 mutations might be associated with a significant proportion of ovarian cancers. Germ line DNA isolated from peripheral leukocytes of 73 patients with ovarian carcinoma was screened for p53 sequence abnormalities utilizing single-strand conformation polymorphism analysis and direct PCR sequencing techniques. As many as 40% of this cohort of ovarian cancer patients from 67 families may represent familial phenotypes. Synchronous and metachronous cancers occurred in 19% of the cohort. Only two intron-based polymorphisms were found. Neither has been previously reported. One of these, in intron 6, occurred in three unrelated patients all of whom had a history of metachronous breast cancer. A polymorphism in intron 10 occurred in a patient with synchronous endometrial cancer. No classic germ line mutations of p53 were found.
authors.affiliation: Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
authors.forename: R E
authors.initials: RE
authors.lastname: Buller
authors.forename: J S
authors.initials: JS
authors.lastname: Skilling
authors.forename: S
authors.initials: S
authors.lastname: Kaliszewski
authors.forename: T
authors.initials: T
authors.lastname: Niemann
authors.forename: B
authors.initials: B
authors.lastname: Anderson
mesh_terms: D001483:Base Sequence; D015331:Cohort Studies; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007438:Introns; D008499:Medical Records; D015335:Molecular Probes / Q000235:genetics; D008969:Molecular Sequence Data; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D015335:Molecular Probes; D016159:Tumor Suppressor Protein p53