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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