Figure 2

Schematics of the mutations in the cohort. (a) The position of each BRCA1 mutation is represented in the lollipop plot, with the number of dots on the lollipop indicating the number of patients in which the mutation is observed, the colour of the bar and point indicates the type of mutation. The blue lollipop with 2 dots denotes the Cys61Gly mutation. Schematic constructed based on lollipop plot generated from GenomePaint61. Note only 15 of 16 mutations are depicted, as one was annotated in AOCS but not detected in our sequencing. (b) Reversion mutations detected in three patients, the variant allele frequencies depicted as pie charts. Note that for 15295_10-00451, one reversion is not shown as it is a large deletion and the VAF not accurately estimable.