title: Analysis of p16 gene deletion and point mutation in breast carcinoma.
abstract: We looked for p16 gene deletion by Southern analysis and p16 gene point mutation by single-stranded conformation polymorphism (SSCP) analysis and direct sequencing of DNA from fresh tumour samples of 35 and 33 breast carcinomas respectively. No homozygous p16 gene deletion was found in any case. A missense point mutation of the p16 gene was found in only one patient. This point mutation was absent from the patient's lymphocytes, ruling out a polymorphism or a germline mutation. These findings suggest that p16 gene alterations are rarely observed in breast carcinoma.
authors.affiliation: U124 Inserm Institut de Recherches sur le Cancer, Lille, France.
authors.forename: B
authors.initials: B
authors.lastname: Quesnel
authors.forename: P
authors.initials: P
authors.lastname: Fenaux
authors.forename: N
authors.initials: N
authors.lastname: Philippe
authors.forename: J
authors.initials: J
authors.lastname: Fournier
authors.forename: J
authors.initials: J
authors.lastname: Bonneterre
authors.forename: C
authors.initials: C
authors.lastname: Preudhomme
authors.forename: J P
authors.initials: JP
authors.lastname: Peyrat
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D001943:Breast Neoplasms / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D005091:Exons; D017353:Gene Deletion; D015321:Gene Rearrangement; D016147:Genes, Tumor Suppressor; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16