Figure 1

Splicing outcomes of variants of exons 19-20 (A-D) and 23-24 (E-K) of BRCA2. RT-PCRs labelled with FAM (shadowed blue peaks) of mutant minigenes were run in an ABI3130 sequencer with Genescan ROX 500 (red peaks) as size standard. Aberrant isoforms are indicated by arrows. RFU: Relative Fluorescence Units. A-D) Chromatograms of the wt minigene and variants of c.8488-1G > A (intron 19), c.8488-2A > G (intron 19), and c.8486A > T (exon19). E-K) Chromatograms of the wt minigene and variants c.9026_9030del (exon 23), c.8954-1_8955delinsAA (intron 22-exon23), c.8954-3C > G (intron 22), c.9117+1G > A (intron 23), c.9118-2A > G (intron 23), and c.9256+1G > A (intron 24). wt, wild type.