Among this 13%, 8.7% (n = 20/230) of PVs were in one of 10 DDRR genes (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11A, NBN, PALB2, RAD51C), 3.5% (n = 8/230) were in one of 4 RC-specific genes (BAP1, FLCN, SDHB, VHL), and the remaining cases bore PVs in non-DDRR genes associated with cancers other than RC (Fig. 2E). The gene discussed is BRCA1; the disease is cancer.