title: Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma.
abstract: The proto-oncogene c-myc is the cellular homologue of the transforming sequence carried by the avian myelocytomastosis virus MC29. A growing body of evidence implicates structural and functional alterations in and around proto-oncogenes such as c-myc in tumorogenesis. Here we report that comparison of the structure of myc from a ductal adenocarcinoma of the breast and from normal breast tissue of the same patient (Sc) revealed a tumour-specific rearrangement of one myc locus and amplification of the other myc locus. (For myc reviews see refs 1-4; for myc involvement in breast neoplasia see refs 5-7.) Within the second intron of the rearranged locus was a non-myc sequence with nearly complete homology to a long interspersed repetitive element (a LINE-1 sequence or L1). In this case, the L1 sequence has functioned as a mobile genetic element to produce a somatic mutation.
authors.affiliation: Fox Chase Cancer Center, Institute for Cancer Research, Philadelphia, Pennsylvania 19111.
authors.forename: B
authors.initials: B
authors.lastname: Morse
authors.forename: P G
authors.initials: PG
authors.lastname: Rotherg
authors.forename: V J
authors.initials: VJ
authors.lastname: South
authors.forename: J M
authors.initials: JM
authors.lastname: Spandorfer
authors.forename: S M
authors.initials: SM
authors.lastname: Astrin
mesh_terms: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004262:DNA Restriction Enzymes; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009710:Nucleotide Mapping; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes
chemical_list: D004251:DNA Transposable Elements; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D004262:DNA Restriction Enzymes