MCPH1 and breast cancer: The results support the reported breast cancer associations for the studied variants, the risk estimations ranging from 5.3-to 25.6-fold for the high-risk alleles (BRCA1/2 variants, PALB2 c.1592delT and ATM c.7570G > C), and 2.0-to 5.9-fold for the moderate-risk variants (CHEK2 c.1100delC, MCPH1 c.909_921del and RAD50 c.687delT), the indicative division into moderate- and high-risk categories based here on the OR and prevalence in the control cohort (> 0.2% for the moderate-risk variants).