Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers

Figure 2

Circos plot representation of all BRCA1 deleterious mutations identified in this study. The outmost ring displays the 23 exons of BRCA1 and each variant at corresponding positions. Recurrent variants are highlighted in a red and enlarged font. The second circle is the mutation density graph, each dot corresponds to a variant, and its distance to the outmost ring represents the frequency (the closer the higher; the most prevalent mutation is colored in red). The ROR is represented by a heatmap in the intermediate ring. The next circle displays the BRCA1 functional domains. The innermost arcs represent previously reported Caucasian-based OCCR/BCCRs. The areas enclosed by the arches indicate the estimated Chinese OCCR/BCCR, which are statistically significant (FDR value <0.05).