Among the 158 patients with no PVs detected in the tumour, 47 were offered genetic counselling with germline testing for BRCA1/2 large rearrangements on the basis of personal or family history suggestive of HBOC, and one patient was found to bear a pathogenic out-of-frame duplication of BRCA1 exon 13 (Fig. 1). This evidence concerns the gene BRCA1 and neoplasm.