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.