Table 3.
False negatives | Phenotype | BRCA1-like parameter |
---|---|---|
BRCA1 mutation | ||
K1727X | Invasive ductal, borderline ER-negativity, BRCA1 copy number 71 % of normal control | 0,18 |
L639X | Ductulo-lobular, borderline ER-negativity, BRCA1 copy number 82 % of normal control |
0,21 |
fs1829X | Invasive ductal, BRCA1 copy number 85 % of normal control | 0,48 |
BRCA1 methylation | ||
20 % | Medullary | 0,30 |
30 % | Invasive ductal, high CD3 counts (2+) | 0,499 |
Cut-off for BRCA1-like parameter: ≥ 0.5; cut-off for positive methylation: ≥20 %
BRCA1 variants are pathogenic mutations with familial background. ER immunoreactivity was classified by Remmele’ score [29]; Loss of heterozygocity (LOH) was analysed by mean copy number loss of BRCA1 probes. T-lymphocyte infiltration was determined by anti-CD3 immunohistochemistry