In addition, LRs accounted for more than 20% of pathogenic variants in BMPR1A, CDKN2A p14ARF, MSH2/EPCAM, PMS2, and RAD51C. The substantial proportion of LRs seen in cancer predisposition genes highlights the need to identify and classify this type of variant accurately for appropriate medical management. The gene discussed is EPCAM; the disease is cancer.