High penetrance gene mutations (BRCA1/2, CDH1, PALB2, PTEN, and TP53) were found in 10.6% of HR patients and in 3.3% of the CC cohort (with mutation rates of 6.7% and 1.8% for those who did and did not fulfill the NCCN criteria, respectively), but none were found in the NC cohort (Table 2). The gene discussed is BRCA1; the disease is cholangiocarcinoma.