Figure 1.
Germline deleterious mutations identified in patients with breast and/or ovarian cancer. Representative image of read alignments visualized with IGV (upper image). Sequencing chromatograms show the mutations and frameshift insertions/deletions in peripheral blood DNA from each patient (lower image). Mutations were identified in MRE11A p.G148X (A), ATM p.I2629fs (B), and MSH6 IVS6+1G>T (C). Arrows indicate the position of the mutations in the patient genome.