Within the tumours of 4 patients harbouring a germline or somatic BRCA1 or BRCA2 mutation, a trend towards a higher activity of SBS3 (associated with defects within the homologous recombination DNA repair pathway) was observed (median number of mutations associated with SBS3: 163 vs 24.1, Wilcoxon p = 0.096, Additional file 1: Fig. S5). This evidence concerns the gene BRCA1 and neoplasm.