title: Implications of a novel cryptic splice site in the BRCA1 gene.
abstract: This study was designed to determine the significance of a single intronic base change (IVS5-12 G-->A) found in a family with a history of breast cancer. This change is predicted to form a cryptic splice site resulting in the addition of 11 nucleotides to the BRCA1 transcript. The BRCA1 gene of the relatives and control individuals was sequenced and analyzed using RT-PCR, ASO hybridization, and size fractionation. All patients showed an 11 nucleotide insert at the intron 5/exon 6 boundary. This variant is likely to form a short protein product incapable of the hypothesized tumor suppressor functions of the BRCA1 gene. This information is important for providing counseling for families with this cryptic splice site and a family history of breast cancer.
authors.affiliation: DNA Diagnostic Laboratory, University of Utah, Salt Lake City 84112, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Hoffman
authors.forename: S E
authors.initials: SE
authors.lastname: Hallam
authors.forename: V L
authors.initials: VL
authors.lastname: Venne
authors.forename: E
authors.initials: E
authors.lastname: Lyon
authors.forename: K
authors.initials: K
authors.lastname: Ward
mesh_terms: D001483:Base Sequence; D018076:DNA, Complementary; D005260:Female; D019398:Genes, BRCA1; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D012326:RNA Splicing; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary