title: A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.
abstract: We report here the functional characterisation of a missense mutation c.7235G>A in BRCA2. By reverse transcriptase polymerase chain reaction the mutation is demonstrated to cause skipping of exon 13. We conclude that the mutation is most likely deleterious.
authors.affiliation: Department of Clinical Genetics and Clinical Biochemistry, Odense University Hospital, Odense, Denmark. mads.thomassen@ouh.fyns-amt.dk
authors.forename: Mads
authors.initials: M
authors.lastname: Thomassen
authors.forename: Torben A
authors.initials: TA
authors.lastname: Kruse
authors.forename: Peter K A
authors.initials: PK
authors.lastname: Jensen
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Gerdes
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020869:Gene Expression Profiling; D024522:Genes, BRCA2; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction