Fig. 5

Overview of pathogenic germline variants found in 900 screened patients. a Referring clinicians requested different genes be investigated for germline variants in different patients, thus genes were screened at different rates in SCAN-B. b Outer horizontal barplots show the distribution of clinical subgroups (left) and molecular subtypes (right) of those with PGVs for each gene of interest that showed at least one patient with PGV in SCAN-B. Vertical barplots show the number of patients with PGVs among those screened specifically for a gene divided by clinical subgroups (left) and molecular subtypes (right). Waterfall plot in the middle shows the predicted molecular consequence of PGVs found in the 124 patients. c Lollipop plots showing predicted protein impact of PGVs (above) and variants of uncertain significance (VUS, below) found in BRCA1, BRCA2, and CHEK2 colored by clinical subgroup (left) and PAM50 molecular subtype (right). Splicing variants are not shown. Each circle represents one patient with that variant. T367M amino acid modification in CHEK2 = c.1100delC variant