Fig 2.

Percentage of mutation carriers per mismatch repair gene compared with previous studies. The χ² test was used to compare mutation frequencies from this study with those from previous studies. Hampel et al, A^2,14 is a population-based endometrial cancer cohort. Hampel et al, B^3,13 is a population-based colorectal cancer cohort. Palomaki et al⁵ calculated a weighted proportion from four previous studies on colorectal cancer cohorts. Bonadona et al⁴ is a cohort of patients who were suggestive of Lynch syndrome (LS). Moreira et al⁶ includes patients from four large registries of population-based and/or high-risk families with colorectal cancer. Yurgelun et al¹⁶ is a cohort of patients with histories suggestive of LS. Sjursen et al²³ is a cohort of individuals with a clinical diagnosis of hereditary nonpolyposis colorectal cancer and/or a molecular diagnosis of LS. The cohort in Møller et al⁷ is a pooled prospective database of individuals with LS from several collaborative groups. (*) EPCAM mutations were excluded for all comparisons except those with Møller et al. Most previous studies did not analyze EPCAM, but in Møller et al, EPCAM mutations were combined with MSH2 and could not be excluded. As a result, the number of patients for the comparison with Møller et al in this study is 579, and the MSH2 percentage for this study is 24.9 with EPCAM mutations included.