title: Estrogen receptor variants in clinical breast cancer.
abstract: We have used the screening techniques of chemical mismatch cleavage, single stranded conformational polymorphism, and gel retardation to discover a number of estrogen receptor RNA variants in clinical breast cancer tissues. We have found basepair insertions, transitions, and deletions as well as alternative splicing, yielding deletions of exon 3, 5, or 7. Using a yeast transactivation assay we have discovered receptors with outlaw function, including both a dominant-positive receptor, which is transcriptionally active in the absence of estrogen, and a dominant-negative receptor, which is itself transcriptionally inactive, but prevents the action of normal estrogen receptor. These variants could have clinical significance, helping to explain breast tumor behavior and patient outcome.
authors.affiliation: Division of Medical Oncology, University of Texas Health Science Center, San Antonio 78284-7884.
authors.forename: W L
authors.initials: WL
authors.lastname: McGuire
authors.forename: G C
authors.initials: GC
authors.lastname: Chamness
authors.forename: S A
authors.initials: SA
authors.lastname: Fuqua
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011960:Receptors, Estrogen / Q000032:analysis / Q000235:genetics*
chemical_list: D011960:Receptors, Estrogen