Figure 5.
Visual representation of emerging de-novo mutations at progression that likely result in acquired drug resistance in two patients originally presenting somatic frameshift mutations in BRCA2 (upper panel) and PALB2 (bottom panel) respectively in the pre-treatment samples. In both cases, the sample at treatment progression showed 2 different new deletions resulting in in-frame deletions and restoring the reading frame for BRCA2 and PALB2 respectively. In both cases, these clones were coexisting with the original clone that was present prior to treatment.