Five relevant CNVs have been identified as affecting the following cancer genes APC2, POU5F1, KANSL1, DOCK8 and TMTC3. CNVs encompassing DOCK8 and KANSL1 were classified as pathogenic, while those identified on APC2, POU5F1 and TMTC3 were ranked as likely pathogenic (Table 2 and Fig 3). Here, DOCK8 is linked to cancer.