For breast and colorectal cancers (n = 731), PVs were most frequent in CHEK2 excluding I157T (2.2%, 95% CI 1.4–3.5%), ATM (1.2%, 95% CI 0.6–2.4%), MLH1 (0.8%, 95% CI 0.3–1.9%), and PMS2 (0.7%, 95% CI 0.3–1.7%). Here, PMS2 is linked to colorectal cancer.