When comparing mutation prevalence in BC index patients with ExAC data on a gene‐specific level, significant associations were observed for ATM (OR: 3.63, 95% CI 2.67–4.94; P < .0001), CHEK2 (OR: 2.93, 95% CI 2.29–3.75; P < .0001), PALB2 (OR: 9.53, 95% CI 6.25–14.51; P < .0001), CDH1 (OR: 17.04, 95% CI 3.54–82; P < .0001), and TP53 (OR: 7.30, 95% CI 1.22–43.68; P = .038) (Table 2). The gene discussed is CHEK2; the disease is breast cancer.