CHEK2 and breast cancer: We found some evidence of increased BC risk associated with the combined rare missense substitutions in ATM (OR=1.18; 95% CI 0.99 to 1.40, p=0.073), CHEK2 (OR=1.36; 95% CI 0.99 to 1.87, p=0.066) and PALB2 (OR=1.28; 95% CI 0.95 to 1.73, p=0.12), but not in XRCC2. Considered together, rare missense variants in ATM, CHEK2 and PALB2 were associated with an estimated OR=1.24; 95% CI 1.08 to 1.43, p=0.0025 (table 3).