Additionally, there was one disease-gene affecting CNVR that was present in 7 individuals from all three subpopulations (5 Q1, 1 Q2 and 1 Q3), a 3 kb internal duplication of exons 13-14 of PMS2 (post-meiotic segregation increased in S. cerevisiae 2), a gene in which mutations in both alleles are observed in patients with hereditary nonpolyposis cancer and mismatch repair cancer syndrome. The gene discussed is PMS2; the disease is mismatch repair cancer syndrome.