In a study of 159 families affected with hereditary prostate cancer, they identified six with this variants in families. They also screen non-hereditary prostate cancer patients and find it in 8 out of 317 cases, and 1 out of 256 controls. They report this as p = 0.047 with Fisher’s Exact text, however notably multiple hypotheses were being tested (eight different variants listed in Table 1).
Trying to replicate Xu et al, these authors find no evidence supporting MSR1 mutations being a risk factor for prostate cancer.
Eight of 116 patients with Barrett’s esophagus or esophageal adenocarcinoma carried the MSR1-R392X mutation, which was not found in 239 matched controls (p = 0.0001).