The molecular screening identified a biallelic inactivation of the CDC73 gene, consisting of: a previously reported [5] frameshift deletion of the exon 7, namely c.679_680delAG (R227fs*263), found on DNA extracted from non tumoral tissue and a missense variant of the exon 2, c.231CG (p.Arg77Pro, hereafter R77P) found in the tumour tissue [19]. Here, CDC73 is linked to neoplasm.