The breast cancer risk associated CNVs (Table 1) that mapped to 1000 genomes (NME7, RB1, UGT2B15, BTNL3, RBL1, LGALS9B, MGLL, GSTM1, and PML) were also captured in a recent breast tumor tissue (somatic) profiling study, confirming that the identified genes are primarily in copy number variable regions73. The gene discussed is BTNL3; the disease is breast cancer.