Fig. 3From: Breast cancer risks associated with missense variants in breast cancer susceptibility genesBreast cancer risk estimates from composite gene model in validation samples. Black marks indicate corresponding ORs from training models. Risk categories: ATM FAT/PIK + CADD5: ATM variants lying within the FAT or PI3K/PI4K protein domains with CADD score in fifth quintile; ATM FAT/PIK + CADD1-4: ATM variants lying within the FAT or PI3K/PI4K protein domains with CADD score in any of first four quintiles; ATM outside FAT/PIK: variants lying outside the FAT and PI3K/PI4K protein domains; BRCA1 RING/BRCT + Helix-high: BRCA1 variants lying within the RING or BRCT domains with a high Helix score; BRCA1 RING/BRCT + Helix-low: BRCA1 variants lying with the RING or BRCT domains with a low Helix score; BRCA1 outside RING/BRCT: BRCA1 variants lying outside the RING and BRCT domains; BRCA2 Helix-high: BRCA2 variants with a high Helix score; BRCA2 Helix-low: BRCA2 variants with a low Helix score; CHEK2 Helix-high: CHEK2 variants with a high Helix score; CHEK2 Helix-low: CHEK2 variants with a low Helix score; PALB2 carriers: carriers of any missense variant in PALB2Back to article page