Table 3

 Histology and molecular features of gastric cancers from patients with hereditary non-polyposis colorectal cancer with germline mutations in DNA mismatch repair genes

ID # (criteria)HistologyMMR gene germline mutationMLH1 LOHImmunohistochemistryMSI statusAPC LOHβ-catenin IHC/mutationp53 IHCKRAS/BRAF mutationRepeat containing genes
A, Amsterdam criteria I or II; APC, adenomatous polyposis coli; B, Bethesda criteria; IHC, immunohistochemistry; LOH, loss of heterozygosity; LOH?, putative LOH; MSI, microsatellite instability; MMR, DNA mismatch repair; MSS, microsatellite stable; Mem, membranous; N, normal; ND, not done; NI, not informed; Nuc, nuclear; U, unstable.
1:32 (A)IntestinalMLH1 exon 16 deletion36N++MSINMem/NNegativeN/NNUNUUU
1:80 (A)IntestinalMLH1 exon 16 deletion36LOH++MSILOH?Mem/NPositive (60%)N/NNUNNNU
3:39 (A)IntestinalMLH1 exon 16 deletion36LOH++MSINNuc/NNegativeN/NNUNUUU
4:4 (A)IntestinalMLH1 exon 3–5 deletion73N++MSILOHNuc/NDNegativeN/NNUNDNDNU
7:18 (A)IntestinalMLH1 exon 17, G→C at 1976, R659P73LOH?NDNDNDMSINND/NNDG12D/NNUNNUU
73:1 (A)IntestinalMLH1 exon 3, C→T at 298, R100X29LOHNDNDNDMSILOHND/NDNDN/NNUNNDUU
83:18 (A)IntestinalMLH1 exon 17, C→T at 1975, R659X73N++MSINMem/NNegativeN/NNUNNUU
83:45 (A)IntestinalMLH1 exon 17, C→T at 1975, R659X73NI++MSINMem/NNegativeN/NNUNNNU
90:60 (A)IntestinalMLH1 intron 5, G→A at 454–136NI++MSINMem/NNegativeN/NNUNNUU
122:1 (B)IntestinalMSH2 exon 12, G→A at 1807, D603N33NI++MSINIMem/NDPositive (20%)N/NNUNNUU
130:1 (A)IntestinalMSH2 exon 11, C→T at 1720, Q574XNINDNDNDMSILOH?ND/NNDN/NNUNNUU
12:20 (A)Intestinal/mucinousMLH1 exon 16 deletion36N++MSINMem/NNegativeN/NNUNNNU
67:15 (A)DiffuseMLH1 exon 4, T>G at 320, I107R73NI++MSILOH?Mem/NNegativeN/NNUNNNN