NGS analysis with 99.3% coverage with at least 350x coverage depth (mean coverage depth 3353x) detected BRCA1 c.5074G > A p.(Asp1692Asn) in 52% of reads in the tumour sample (nomenclature according to GenBank accession number NM_007294.3), see Fig. 1a. The gene discussed is BRCA1; the disease is neoplasm.