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. Author manuscript; available in PMC: 2016 Dec 16.
Published in final edited form as: J Med Genet. 2014 Oct 3;51(12):789–796. doi: 10.1136/jmedgenet-2014-102552

Table 4.

MLH1 promoter region methylation in MLH1 mutation heterozygotes

Sample
number
Level of
methylation
Clinical details Family History MLH1 Mutation
11005300 29–38% Carcinoma in situ in adenoma, aged 40 Amsterdam c.405insA
11007868 19–60% CRC aged 44 Amsterdam c.1852_1854delAAG p.Lys618del
11007938 70–80% CRC aged 53 *FDR with endometrial cancer MLH1 c.1668-1G>A r.spl? p.?
11007944 67–82% CRC aged 39 Amsterdam MLH1 del x6
*

First degree relative