Within our fBC cases we identified several genes within or in close proximity to rare CNVs which have previously been associated with BC: the putative oncogene MLLT11 (aka AF1Q) has been reported to be over expressed in a BC cell line affecting invasive and metastatic potential [57,58]; while PTK2B has been shown to be the most frequently lost kinase in sporadic BC tumours and is suggested to contribute to the disease phenotype [59]. The gene discussed is PTK2B; the disease is neoplasm.