Table 4

MLH1 promoter region methylation in MLH1 mutation heterozygotes

Sample numberLevel of methylation (%)Clinical detailsFamily historyMLH1 mutation
11 005 30029–38Carcinoma in situ in adenoma, aged 40 yearsAmsterdamc.405insA
11 007 86819–60CRC aged 44 yearsAmsterdamc.1852_1854delAAG p.Lys618del
11 007 93870–80CRC aged 53 yearsFDR with endometrial cancerMLH1 c.1668–1G>A r.spl? p.?
11 007 94467–82CRC aged 39 yearsAmsterdamMLH1 del x6
  • CRC,colorectal cancer; FDR, first-degree relative.