title: Human breast cancer: frequent p53 allele loss and protein overexpression.
abstract: A sample of 114 primary breast tumors and corresponding constitutional DNA were tested for loss of heterozygosity (LOH) of the YNZ22 and p53 genes, both located in the 17p13 region. Loss of the p53 allele was found in 28 of 44 primary breast carcinomas (64%). In contrast LOH in only 26 of 61 tumors (43%) was detected with the variable number of tandem repeats (VNTR) probe YNZ22 mapping at 17p13.3 close to the p53 locus at 17p13.1. Among 19 tumors informative for both probes allele loss at 17p13.3 never occurred without p53 involvement. These data suggest, that p53 is the target of 17p13 allelic deletions in human breast cancer. Immunohistochemistry showed overexpression of the p53 protein in 25 of 50 cases (50%) presumably reflecting activating point mutations. Overexpression was not correlated with allele loss but seemed to be closely related to the presence of point mutations in this study. No homozygous deletions or rearrangements of the p53 gene were detected. This would argue for an important role of heterozygous p53 mutations in human breast cancer.
authors.affiliation: Institut für Humangenetik, Medizinische Fakultät, Universität Hamburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Singh
authors.forename: M
authors.initials: M
authors.lastname: Simon
authors.forename: I
authors.initials: I
authors.lastname: Meybohm
authors.forename: I
authors.initials: I
authors.lastname: Jantke
authors.forename: W
authors.initials: W
authors.lastname: Jonat
authors.forename: H
authors.initials: H
authors.lastname: Maass
authors.forename: H W
authors.initials: HW
authors.lastname: Goedde
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001943:Breast Neoplasms / Q000737:chemistry / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D005260:Female; D017353:Gene Deletion; D016158:Genes, p53; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D015342:DNA Probes; D009363:Neoplasm Proteins; D016159:Tumor Suppressor Protein p53