Fig. 1

BRCA1 pathogenic variants. X axis shows the amino acid position and functional domains of the BRCA1 protein. Each lollipop represents a pathogenic variant and the type of variant is depicted with different colors. The Y axis demonstrates the number of mutation carriers. The Horizontal bars show the copy number variation. Deletion (red) and duplication (purple) is depicted by different colors. Breast cancer Cluster Regions (BCCRs) are shown as black bars and Ovarian Cancer Cluster Region (OCCR, Rebbeck and colleagues [21]) are depicted in dark blue. Splice-site variants are not shown