Table 3.

The association of BRCA1 mutation-associated and other pathologic features with BRCA1 promoter region methylation in the peripheral blood

FeatureBRCA1 promoter methylatedBRCA1 promoter nonmethylatedOR (95% CI)PNPVPPV
Family history N = 26 N = 224
 One or more first-degree relative with breast cancer, <60 years4 (15%)19 (8%)2 (0.53–5.8)0.30.90.17
 One or more first- or second-degree relative with ovarian cancer1 (4%)2 (1%)4.4 (0.2–48)0.30.90.33
 Strong family history5 (19%)25 (11%)1.9 (0.59–5.1)0.30.90.17
 One or more first-degree relative with breast cancer, ≥60 years1 (4%)8 (4%)1.1 (0.057–6.2)0.90.90.11
 One or more second-degree relative with breast cancer6 (23%)67 (30%)0.7 (0.25–1.7)0.50.890.08
Morphologic features N = 28 N = 226
 Trabecular growth pattern15 (54%)34 (15%)6.5 (2.9–15)<0.00010.940.31
 High mitotic index14 (50%)22 (10%)9.3 (3.9–22)<0.00010.940.39
 Necrosis16 (57%)68 (30%)3.1 (1.4–7)0.0050.930.19
 Circumscribed growth pattern14 (50%)31 (14%)6.3 (2.7–15)<0.00010.930.31
 Moderate or intense lymphocytic infiltrate26 (93%)182 (81%)3.1 (0.89–20)0.080.960.12
 Syncytial growth pattern6 (21%)8 (4%)7.4 (2.3–23)0.0020.910.43
 Malignant nuclear grade24 (86%)191 (85%)1.1 (0.39–3.9)0.90.90.11
 Pushing margins (>50%)2 (7%)5 (2%)3.4 (0.47–17)0.20.890.29
 Little or no tubule formation21 (75%)168 (74%)1 (0.44–2.7)0.90.890.11
ER and PR status N = 24 N = 212
 ER-negative15 (62%)71 (33%)3.3 (1.4–8.2)0.0060.940.17
 PR-negative12 (50%)59 (28%)2.6 (1.1–6.2)0.030.930.17

NOTE: The overall number (N) of women for whom the data were available are given in the headings of each category of predictive feature.

Abbreviations: NPV, negative predictive value; PPV, positive predictive value.