Table 1.

Pathogenic mutations, clinicopathologic features, and molecular findings of the 24 carrier families

GeneFamily codeID probandGender (male, female)Cancer site and age at diagnosisMutation designationExon/intronMutation typeMutation statusLoss of protein expressionMSI statusNo. of carrierNo. of noncarrier
MLH1VA279483MColon adenoma, 46c.23del16; STOP11E-1FrameshiftNewMLH1/PMS2-MSI-H12
VA296518MColon carcinoma, 36c.77delA; STOP35E-1FrameshiftNew1
VA170300MColon carcinoma, 45c.119 delT; p.L40fsXE-2FrameshiftMLH1_0089953
VA4477FRectum, 27c.306+5G>AI-3SplicingMLH1_00175MLH1-MSI-H59
VA67102MColon carcinoma, 59c.306+5G>AI-3SplicingMLH1_0017534
VA175309MColon carcinoma, 37c.306+5G>AI-3SplicingMLH1_0017533
VA275429MColon carcinoma, 37–42c.1865T>A; Leu622HisE-16Missense pathogenicMLH1_00643MLH1-MSI-H1
VA22MTransverse colon, 31c.2221-2224 delCTGC;ins30E-19FrameshiftMLH1_01285a43
MSH2VA117194FUterine-colon, 47–53c.229_230delAG; p.Ser77CysfsX4E-2FrameshiftMSH2_0010053
VA22438MColon-rectum, 43–63c.229_230delAG; p.Ser77CysfsX4E-2FrameshiftMSH2_00100MSH2/MSH6-MSI-H76
VA1786FEndometrium, 60c.646-1019_1386+2420del p.Ile216_Gln462delE-4-8Exon 4–8 deletionNewMSH2-MSI-H66
VA2029MColon carcinoma, 31c.646-1019_1386+2420del p.Ile216_Gln462delE-4-8Exon 4–8 deletionNew82
VA3252FEndometrium, 51c.646-1019_1386+2420del p.Ile216_Gln462delE-4-8Exon 4–8 deletionNewMSH2/MSH6-MSI-H53
VA134246FEndometrium, 42c.646-1019_1386+2420del p.Ile216_Gln462delE-4-8Exon 4–8 deletionNew3
VA44FColon carcinoma, 39c.1077-3513_1276+5655 p.R359RfsX16E-7Exon 7 deletionNew86
VA169299MColon carcinoma, 29–37c.1077-3513_1276+5655 p.R359RfsX16E-7Exon 7 deletionNewMSH2/MSH6-MSI-H12
VA247413MColon/prostate/urinary, 47–57–60c.1077-3513_1276+5655 p.R359RfsX16E-7Exon 7 deletionNew44
VA188326FColon carcinoma, 68c.1226_1227delAG p.Gln409ArgfsX7E-7MSH2_00323MSH2/MSH6-MSI-H42
VA251432FColon/endometrium, 23–35c.1216C>T; p.Arg406XE-7NonsenseMSH2_003121
VA675MColon-rectum, rectum-sigma, 47C.1661G>A; p.Ser554ThrE-10SplicingMSH2_00999aMSH2/MSH6-MSI-H1826
VA174305MColon carcinoma, 41c.2240_2241delTA p.Ile747ArgfsX2E-14FrameshiftMSH2_01137MSH2/MSH6-MSI-H2
VA199368MUrinary tract/colon carcinoma, 50–52c.2470C>T; p.Gln824XE-15NonsenseMSH2_01163MSH2/MSH6-MSI-H32
VA191430FEndometrium, 40c.2634G>A skipping exon 15E-15SplicingMSH2_008232
MSH6VA142265FEndometrium, Breast, 59–61c.699delT; STOP245E-4FrameshiftNewMSH6-41

NOTE: In gray, mutations not described before.

  • aMutations described by us in LOVD.