Fig. 3.

Breast 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 PALB2