Table 3 Prevalence of BARD1 Cys557Ser among patients with familial breast or ovarian cancer, according to family history.
| Subgroup and study population* | Frequency | OR (95% CI) | p Value |
|---|---|---|---|
| BRCA1/BRCA2 mutation‐positive families | |||
| Finland† | 0.0% (0/10) | 0.0 (0.0 to 24.06) | 0.68 |
| Iceland | 3.8% (2/53) | 1.2 (0.28 to 5.25) | 0.68 |
| Denmark | 1.6% (1/63) | 0.2 (0.03 to 1.61) | 0.15 |
| Sweden | 2.1% (2/97) | 0.5 (0.12 to 2.51) | 0.74 |
| Norway | 0.0% (0/27) | ND | ND |
| Total‡ | 2.2% (5/223) | 0.8 (0.33 to 2.03) | 0.66 |
| BRCA1/BRCA2 mutation‐negative families | |||
| Finland† | 6.0% (7/116) | 3.9 (1.70 to 9.11) | 0.005 |
| Iceland | 6.7% (7/104) | 2.2 (0.96 to 5.26) | 0.08 |
| Denmark | 5.8% (9/156) | 0.8 (0.37 to 1.78) | 0.60 |
| Sweden | 10.1% (8/79) | 2.9 (1.14 to 7.55) | 0.04 |
| Norway | 5.8% (8/138) | ND | ND |
| Total‡ | 6.8% (31/455) | 2.6 (1.72 to 3.95) | <0.001 |
| Family history of breast cancer (without ovarian cancer) | |||
| Finland† | 7.4% (7/94) | 4.9 (2.12 to 11.5) | 0.001 |
| Iceland | 6.7% (5/75) | 2.2 (0.83 to 5.92) | 0.10 |
| Denmark | 6.0% (7/117) | 0.8 (0.36 to 2.00) | 0.70 |
| Sweden | 7.3% (8/110) | 2.0 (0.80 to 5.21) | 0.13 |
| Norway | 4.1% (4/98) | ND | ND |
| Total‡ | 6.8% (27/396) | 2.6 (1.68 to 4.05) | <0.001 |
| Family history of breast and ovarian cancer or only ovarian cancer§ | |||
| Finland† | 0.0% (0/32) | 0.0 (0.0 to 7.42) | 0.47 |
| Iceland | 9.1% (2/22) | 3.1 (0.70 to 13.9) | 0.16 |
| Denmark | 5.1% (2/39) | 0.7 (0.16 to 3.14) | 1.00 |
| Sweden | 3.0% (2/66) | 0.8 (0.18 to 3.76) | 1.00 |
| Norway | 5.7% (3/53) | ND | ND |
| Total‡ | 3.8% (6/159) | 1.4 (0.60 to 3.24) | 0.45 |
ND, not determined due to lack of controls.
*Includes only samples for which the particular classification is known.
†Partly included in Karppinen et al.11
‡Norway not included.
§Altogether 10 patients had a family history of only ovarian cancer (two from Denmark, five from Sweden and three from Finland), and none of them carried BARD1 Cys557Ser mutation.