title: A new high frequency polymorphism in the HER-2/neu oncogene in normal tissue and breast tumors.
abstract: The HER-2/neu (erbB-2) oncogene, if amplified and/or overexpressed in breast and ovarian cancers, is associated with a poor prognosis. Employing direct DNA sequencing, we have discovered and sequenced an 80 base pair intron from human placenta which contains an A to G polymorphism. This polymorphism lends itself to restriction fragment length polymorphism analysis of the PCR product spanning this intron. All three genotypes, homozygous A, heterozygous, and homozygous G appear in normal control populations and breast tumors. Also, no difference was seen between the polymorphic form found in five breast cancers and the corresponding normal tissue.
authors.affiliation: Cancer Treatment Research Foundation, Tulsa, OK 74137.
authors.forename: W T
authors.initials: WT
authors.lastname: Briscoe
authors.forename: D B
authors.initials: DB
authors.lastname: Ray
authors.forename: J L
authors.initials: JL
authors.lastname: Airhart
authors.forename: A L
authors.initials: AL
authors.lastname: Ratliff
authors.forename: E A
authors.initials: EA
authors.lastname: Shockley
authors.forename: L
authors.initials: L
authors.lastname: Whetsell
authors.forename: F V
authors.initials: FV
authors.lastname: Schaefer
authors.forename: R M
authors.initials: RM
authors.lastname: Williams
mesh_terms: D001483:Base Sequence; D001940:Breast / Q000502:physiology*; D001943:Breast Neoplasms / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008214:Lymphocytes / Q000737:chemistry; D008969:Molecular Sequence Data; D009856:Oncogene Proteins, Viral / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D018719:Erb-b2 Receptor Tyrosine Kinases
chemical_list: D004273:DNA, Neoplasm; D015252:Deoxyribonucleases, Type II Site-Specific; D009856:Oncogene Proteins, Viral; D018719:Erb-b2 Receptor Tyrosine Kinases; C035801:CCSGG-specific type II deoxyribonucleases