Further, our findings are consistent with current understanding of the cancer risk profile for each gene: colorectal and uterine/endometrial cancer risks were highest for MLH1 and MSH2 and lower for MSH6 and PMS2. PVs in MSH2, MSH6, and PMS2 were significantly associated with increased risk for ovarian cancer, while the number of PVs in MLH1 was too small to reliably assess for an association. Here, PMS2 is linked to ovarian carcinoma.