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