More recent studies into these polymorphisms have found direct associations between specific SNPs and breast cancer in BRCA1/2 mutation carriers; TOX3, FGFR2, MAP3K, LSP1, 2q35, SLC4A7, 1p11.2, 5p12, 6q25.1 loci have all been associated with increased risk in breast cancer for BRCA2 mutation carriers [6, 7]. The gene discussed is BRCA1; the disease is breast cancer.