title: Structural rearrangement of the retinoblastoma gene in human breast carcinoma.
abstract: Structural changes of the human retinoblastoma gene have been demonstrated previously in retinoblastoma and some clinically related tumors including osteosarcoma. Structural aberrations of the retinoblastoma locus (RB1) were observed in 25% of breast tumor cell lines studied and 7% of the primary tumors. These changes include homozygous internal deletions and total deletion of RB1; a duplication of an exon was observed in one of the cell lines. In all cases, structural changes either resulted in the absence or truncation of the RB1 transcript. No obvious defect in RB1 was detected by DNA blot analysis in primary tumors or cell lines from Wilms' tumor, cervical carcinoma, or hepatoma. These results further support the concept that the human RB1 gene has pleiotropic effects on specific types of cancer.
authors.affiliation: Division of Hematology/Oncology, Childrens Hospital of Los Angeles, CA.
authors.forename: A
authors.initials: A
authors.lastname: T'Ang
authors.forename: J M
authors.initials: JM
authors.lastname: Varley
authors.forename: S
authors.initials: S
authors.lastname: Chakraborty
authors.forename: A L
authors.initials: AL
authors.lastname: Murphree
authors.forename: Y K
authors.initials: YK
authors.lastname: Fung
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005091:Exons; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006720:Homozygote; D006801:Humans; D008207:Lymphatic Metastasis; D008593:Menopause; D009154:Mutation; D009693:Nucleic Acid Hybridization; D012175:Retinoblastoma / Q000235:genetics*; D012307:Risk Factors; D014407:Tumor Cells, Cultured
chemical_list: D015342:DNA Probes; D004247:DNA