Table 1 Prevalence of heterozygous germline loss-of-function (LoF) variants identified in the BARD1 gene (transcript NM_000465.3) in controls and index patients with breast cancer (BC) or ovarian cancer (OC) according to family history and age at first diagnosis (AAD). A total of 26 heterozygous germline LoF variants were listed in the ExAC database (Exome Aggregation Consortium, non-Finnish Europeans (NFE); excluding The Cancer Genome Atlas data (TCGA); as of June 2016); 8 heterozygous germline LoF variants were listed in the FLOSSIES database (“Fabulous Ladies Over Seventy”; American-European ancestry); 2 heterozygous germline LoF variants were identified in geographically matched female controls (GMCs); 23 germline LoF variants were found in 4469 familial index patients with BC; no heterozygous germline LoF variant was found in 451 familial index patients with OC. Univariate logistic regression was performed to estimate odds ratios (ORs) and 95% confidence intervals (CIs). When considering ExAC NFE nonTCGA controls only, ORs were similar to those given in Table 1 which consider all controls (^AOR = 5.40, 95% CI = 3.08–9.47, P < 0.00001; ^BOR = 5.46, 95% CI = 3.02–9.88, P < 0.00001; ^COR = 5.13, 95% CI = 1.79–14.74, P = 0.01084; ^DOR = 12.16, 95% CI = 5.68–26.03, P < 0.00001; ^EOR = 7.51, 95% CI = 4.15–13.58, P < 0.00001; ^FOR = 5.58, 95% CI = 2.69–11.60, P = 0.00007; ^GOR = 2.74, 95% CI = 0.83–9.08, P = 0.11082; ^HOR = 2.32, 95% CI = 0.81–6.64, P = 0.11396, ^IOR = 1.58, 95% CI = 0.21–11.66, P = 0.47806)

From: Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer