Thus, despite BRCA1 and BRCA2 PGVs being not uncommon in the general population and therefore likely to be detected in large scale discovery studies like the above, the reported data with respect to BRCA2 PGV frequency does suggest a possible link of germline heterozygous BRCA2 PGVs with particular cancers occurring in the paediatric and young adult population. This evidence concerns the gene BRCA1 and cancer.