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Table 3 False negative BRCA1-aberrant samples

From: Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study

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
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
  1. Cut-off for BRCA1-like parameter: ≥ 0.5; cut-off for positive methylation: ≥20 %
  2. 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