We tested 67,112 invasive breast cancer cases and 53,766 controls collected by the Breast Cancer Association Consortium (BCAC, http://bcac.ccge.medschl.cam.ac.uk/) and 26,662 carriers of BRCA1 or BRCA2 pathogenic variants collected by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA, http://cimba.ccge.medschl.cam.ac.uk/), of whom 13,497 were affected with breast cancer and 13,165 were unaffected. The gene discussed is BRCA1; the disease is breast cancer.