Eight mutations were identified in genes that are included on large cancer germline panel tests but for which single gene mutations are not typically associated with an increased risk of cancer; these are genes associated with recessive conditions in which individuals with homozygous or compound heterozygous mutations may have an increased risk of cancer as part of the disease phenotype (ATR, BLM, FANCI, MRE11A, NTHL1, RECQL4, and WRN). Here, BLM is linked to cancer.