Fig. 2
From: Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Case and control carriers across all samples for each observed missense variant by gene. A ATM. ATM risk categories: variants lying within the FAT or PI3K/PI4K protein domains with CADD score in fifth quintile (FAT/PIK + CADD5); variants lying within the FAT or PI3K/PI4K protein domains with CADD score in any of first four quintiles (FAT/PIK + CADD1-4); variants lying outside the FAT and PI3K/PI4K protein domains (Outside FAT/PIK). B BRCA1. BRCA1 risk categories: variants lying within the RING or BRCT domains with a high Helix score (RING/BRCT + Helix-high); variants lying with the RING or BRCT domains with a low Helix score (RING/BRCT + Helix-low); variants lying outside the RING and BRCT domains (Outside RING/BRCT). C BRCA2. BRCA2 risk categories: variants with a high Helix score (Helix-high); variants with a low Helix score (Helix-low). D CHEK2. CHEK2 risk categories: variants with a high Helix score (Helix-high); variants with a low Helix score (Helix-low). E PALB2. PALB2 risk categories: carriers of any missense variant (Carriers)