title: No evidence for germline mutations in exons 5-9 of the p53 gene in 25 breast cancer families.
abstract: Recent studies have demonstrated that families with the Li-Fraumeni syndrome carry inherited point mutations of the p53 gene. In the present study 25 families with strong histories of breast cancer were screened for the presence of such mutations. Polymerase chain reaction products of exons 5-9 of the p53 gene were examined by single-stranded conformational polymorphism analysis and, in addition, exon 7 was further screened by direct sequencing. No mutations were detected in constitutive DNA by either method. These results indicate that familial breast cancer does not usually result from germline point mutations in the p53 gene.
authors.affiliation: Section of Molecular Carcinogenesis, Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: W
authors.initials: W
authors.lastname: Warren
authors.forename: R A
authors.initials: RA
authors.lastname: Eeles
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: D F
authors.initials: DF
authors.lastname: Easton
authors.forename: D
authors.initials: D
authors.lastname: Averill
authors.forename: M A
authors.initials: MA
authors.lastname: Ponder
authors.forename: K
authors.initials: K
authors.lastname: Anderson
authors.forename: A M
authors.initials: AM
authors.lastname: Evans
authors.forename: R
authors.initials: R
authors.lastname: DeMars
authors.forename: R
authors.initials: R
authors.lastname: Love
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction