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In inclusion, we analyzed big genomic rearrangements (LGRs) making use of a coverage-based algorithm as well as a revised BRCA1/2 NGS assay (BRCAaccuTest PLUS), which additionally covered a BRCA1 promoter region. RESULTS The NGS BRCA1/2 assay detected all 20 SNVs and 21 tiny InDels in 56 patients. Among seven LGRs detected by MLPA, six exonic LGRs were really identified by both NGS BRCA1/2 assays. One pathogenic LGR, situated on a BRCA1 promoter region, had been successfully identified