Subsetting for ER status, we found that germline LoF missense variants in BARD1’s structured domains were enriched in estrogen receptor negative (ER−) breast cancer cases with an odds ratio of 3.60 (95% CI = 1.58 – 8.23) compared to healthy controls (Fig. 3d), aligning well with the CARRIERS45 study where protein-truncating BARD1 variants were associated with elevated ER− breast cancer risk. The gene discussed is ESR1; the disease is breast cancer.