Table 3. The association of BRCA1 mutation-associated and other pathological features with BRCA1 promoter region methylation in the peripheral blood.
For each feature potentially predictive of BRCA1 promoter methylation status, the number (proportion in parentheses) of women with the feature by BRCA1 methylation status, the odds ratio (OR) with 95% confidence interval and corresponding statistical significance (p), the negative predictive value (NPV) and positive predictive value (PPV). The overall number (N) of women with for whom the data was available are given in the headings of each category of predictive feature.
| FEATURE |
BRCA1 promoter methylated |
BRCA1 promoter non-methylated |
OR (95% CI) | p | NPV | PPV |
|---|---|---|---|---|---|---|
| FAMILY HISTORY | N = 26 | N = 224 | ||||
| One or more 1st degree relative with breast cancer < 60 yrs | 4 (15%) | 19 (8%) | 2 (0.53–5.8) | 0.3 | 0.9 | 0.17 |
| One or more 1st or 2nd degree relative with ovarian cancer | 1 (4%) | 2 (1%) | 4.4 (0.2–48) | 0.3 | 0.9 | 0.33 |
| Strong family history | 5 (19%) | 25 (11%) | 1.9 (0.59–5.1) | 0.3 | 0.9 | 0.17 |
| One or more 1st degree relative with breast cancer ≥ 60 yrs | 1 (4%) | 8 (4%) | 1.1 (0.057–6.2) | 0.9 | 0.9 | 0.11 |
| One or more 2nd degree relative with breast cancer | 6 (23%) | 67 (30%) | 0.7 (0.25–1.7) | 0.5 | 0.89 | 0.08 |
| MORPHOLOGICAL FEATURES | N = 28 | N = 226 | ||||
| Trabecular growth pattern | 15 (54%) | 34 (15%) | 6.5 (2.9–15) | <0.0001 | 0.94 | 0.31 |
| High mitotic index | 14 (50%) | 22 (10%) | 9.3 (3.9–22) | <0.0001 | 0.94 | 0.39 |
| Necrosis | 16 (57%) | 68 (30%) | 3.1 (1.4–7) | 0.005 | 0.93 | 0.19 |
| Circumscribed growth pattern | 14 (50%) | 31 (14%) | 6.3 (2.7–15) | <0.0001 | 0.93 | 0.31 |
| Moderate or intense lymphocytic infiltrate | 26 (93%) | 182 (81%) | 3.1 (0.89–20) | 0.08 | 0.96 | 0.12 |
| Syncytial growth pattern | 6 (21%) | 8 (4%) | 7.4 (2.3–23) | 0.002 | 0.91 | 0.43 |
| Malignant nuclear grade | 24 (86%) | 191 (85%) | 1.1 (0.39–3.9) | 0.9 | 0.9 | 0.11 |
| Pushing margins (> 50%) | 2 (7%) | 5 (2%) | 3.4 (0.47–17) | 0.2 | 0.89 | 0.29 |
| Little or no tubule formation | 21 (75%) | 168 (74%) | 1 (0.44–2.7) | 0.9 | 0.89 | 0.11 |
| ER and PR STATUS | N = 24 | N = 212 | ||||
| ER negative | 15 (62%) | 71 (33%) | 3.3 (1.4–8.2) | 0.006 | 0.94 | 0.17 |
| PR negative | 12 (50%) | 59 (28%) | 2.6 (1.1–6.2) | 0.03 | 0.93 | 0.17 |