Fig. 2

Selected BRCA2 mutations. The Ion Torrent data displayed in IGV [51] is shown for the newly described 6005delT mutation in the left panel, a. The display shows individual forward (F) sequence reads in red and reverse (R) reads in blue. The 6005delT mutation can be seen as a gap in the sequence (arrow) in approximately half of the F and R reads – this is consistent with a heterozygous mutation. Sanger sequencing (not shown) confirmed this mutation. b. Both the Ion Torrent (above) and Sanger sequence (displayed in Mutation Explorer, SoftGenetics, below) for the C1787S and G1788D mutations are displayed in the right panel. The co-occurrence of the C1787S and G1788D variants on the same allele can be clearly seen in the Ion Torrent reads, whereas phase cannot be determined from the Sanger traces. Note: BRCA1 is in reverse orientation in the genome, and so IGV display is of the reverse complement