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Table 5 Sensitivity and specificity for each methylation probe in distinguishing BRCA1/2-related from sporadic breast carcinomas

From: BRCA promoter methylation in sporadic versus BRCA germline mutation-related breast cancers

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%
  1. 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
  2. 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
  3. 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