Additional file 6 of Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

: Figure S2 Additional truncating variants carriers vs non-carriers . The lollipop plot shows the position of BRCA1 pathogenic variants in two cohorts: (a) early AAO and (b) Control cohort; with and without additional truncating variant in DNA-repair genes. X axis shows the functional domain of BRCA1 protein and amino acid position and Y axis demonstrates the number of carriers. Each lollipop represents the location of a BRCA1 pathogenic variant of those with (red) and without (blue) additional truncating variants . Horizontal bars depict the copy number variations of those with (red) and without (blue) additional truncating variant. Splice-site variants are not shown. (TIFF 13653 kb)