Table 2.
Risk and Ancestry Summarya
| Elective Group | Tests | Pos Rate | Seq Positive | LR Positive | Seq Pos Rate | LR Pos Rate | Seq % of Positives | LR % of Positives | BART %: LRP % |
|---|---|---|---|---|---|---|---|---|---|
| African | 947 | 11.5% | 108 | 1 | 11.4% | 0.1% | 99.1% | 0.9% | 100%:0% |
| Ashkenazi | 250 | 11.2% | 28 | 0 | 11.2% | 0.0% | 100.0% | 0.0% | n/a |
| Asian | 661 | 6.8% | 43 | 2 | 6.5% | 0.3% | 95.6% | 4.4% | 100%:0% |
| Central/Eastern Europe | 971 | 8.5% | 79 | 4 | 8.1% | 0.4% | 95.2% | 4.8% | 75%:25% |
| Latin American/Caribbean | 830 | 11.4% | 80 | 15 | 9.6% | 1.8% | 84.2% | 15.8%b | 93%:7% |
| Native American | 74 | 5.4% | 4 | 0 | 5.4% | 0.0% | 100.0% | 0.0% | n/a |
| Near East/Mideast | 178 | 9.6% | 17 | 0 | 9.6% | 0.0% | 100.0% | 0.0% | n/a |
| None specified only | 2772 | 9.2% | 232 | 22 | 8.4% | 0.8% | 91.3% | 8.7% | 73%:27% |
| Western/Northern Europe | 13,644 | 7.5% | 961 | 60 | 7.0% | 0.4% | 94.1% | 5.9% | 67%:33% |
| High-Risk Group | Tests | Pos Rate | Seq Positive | LR Positive | Seq Pos Rate | LR Pos Rate | Seq % of Positives | LR % of Positives | BART %: LRP % |
| African | 1767 | 29.4% | 476 | 43 | 26.9% | 2.4% | 91.7% | 8.3% | 98%:2% |
| Ashkenazi | 676 | 12.7% | 82 | 4 | 12.1% | 0.6% | 95.3% | 4.7% | 75%:25% |
| Asian | 552 | 23.9% | 125 | 7 | 22.6% | 1.3% | 94.7% | 5.3% | 100%:0% |
| Central/Eastern Europe | 1716 | 24.5% | 386 | 34 | 22.5% | 2.0% | 91.9% | 8.1% | 71%:29% |
| Latin American/Caribbean | 1560 | 31.2% | 383 | 104 | 24.6% | 6.7% | 78.6% | 21.4%b | 99%:1% |
| Native American | 285 | 17.9% | 49 | 2 | 17.2% | 0.7% | 96.1% | 3.9% | 100%:0% |
| Near East/Mideast | 195 | 24.6% | 40 | 8 | 20.5% | 4.1% | 83.3% | 16.7%c | 100%:0% |
| None specified only | 3831 | 23.6% | 827 | 78 | 21.6% | 2.0% | 91.4% | 8.6% | 72%:28% |
| Western/Northern Europe | 12,229 | 23.1% | 2552 | 271 | 20.9% | 2.2% | 90.4% | 9.6% | 64%:36% |
BART indicates BRACAnalysis Rearrangement Test; LR, large rearrangement; LRP, Large Rearrangement Panel; n/a, not applicable; Pos, positive; Seq, sequence.
The mutation profile of BRCA1 and BRCA2 sequencing and LR mutations between the high-risk and elective groups are broken down by reported ancestry. Patients reporting multiple ancestries were excluded from this portion of the analysis. Ashkenazi Jewish patients only included those who underwent testing beyond the 3 most common Ashkenazi founder mutations.
P < .001, Fisher's exact test.
P = .15, Fisher's exact test.