Table 5.
Sensitivity and specificity for each methylation probe in distinguishing BRCA1/2-related from sporadic breast carcinomas
| Probe | Sensitivity | 95% CI | Specificity | 95% CI |
|---|---|---|---|---|
| BRCA1.1a | 70 of 72 (97.2%) | 90.3–99.6% | 11 of 80 (13.8%) | 7.1–23.3% |
| BRCA1.2b | 46 of 72 (63.9%) | 51.7–74.9% | 58 of 80 (72.5%) | 61.4–81.9% |
| BRCA1.3a | 65 of 72 (90.3%) | 90.0–96.0% | 11 of 80 (13.8%) | 7.1–23.3% |
| BRCA1 totalc | 46 of 72 (63.9%) | 51.7–74.9% | 58 of 80 (72.5%) | 61.4–81.9% |
| BRCA2.1b | 48 of 72 (66.7% | 54.6–77.3% | 70 of 80 (87.5%) | 78.2–93.8% |
| BRCA2.2b | 7 of 72 (9.7%) | 4.0–19.0% | 80 of 80 (100%) | 95.5–100% |
| BRCA2.3b | 36 of 72 (50.0%) | 38.0–62.0% | 78 of 80 (97.5%) | 91.3–99.7% |
| BRCA2.4b | 7 of 72 (9.7%) | 4.0–19.0% | 80 of 80 (100%) | 95.5–100% |
| BRCA2 totalc | 50 of 72 (69.4%) | 57.5–79.8% | 70 of 80 (87.5%) | 78.2–93.8% |
aSensitivity and specificity calculated as if BRCA1 promoter methylation would be performed to rule out BRCA germline mutations. True-positive: BRCA1/2-related cancers without BRCA1.1 or BRCA1.3 methylation. True-negative: sporadic cancers with BRCA1.1 or BRCA1.3 methylation
bSensitivity and specificity calculated as if BRCA1 promoter methylation would be performed to rule in BRCA germline mutations. True-positive: BRCA1/2-related cancers with BRCA1.2, BRCA2.1, BRCA2.2, BRCA2.3, or BRCA2.4 methylation. True-negative: sporadic cancers without BRCA1.2, BRCA2.1, BRCA2.2, BRCA2.3, or BRCA2.4 methylation
cSensitivity and specificity calculated as if BRCA1 promoter methylation would be performed to rule in BRCA germline mutations. True-positive: BRCA1/2-related cancers with methylation of at least one of the BRCA1 or BRCA2 probes. True-negative: sporadic cancers without methylation in any of the BRCA1 or BRCA2 probes