Case no. | Germline MMR gene mutationa | IHC of MMR proteins | MSI | Amsterdam II criteria | Revised Bethesda guidelines | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Transcript | Gene region | Nucleotide | Amino acid | Function change | Mutation type | MLH1 | MSH2 | MSH6 | PMS2 | ||||
1 | MSH6 | NM_000179.2 | Exon 4 | c.C742T | p.Arg248Ter | Nonsense | Pathogenic | (+) | (+) | (−) | (+) | NA | (−) | (−) |
2 | MSH6 | NM_000179.2 | Exon 4 | c.C3103T | p.Arg1035Ter | Nonsense | Pathogenic | (+) | (+) | (+) | (+) | MSI-H | (−) | (−) |
3 | MSH2 | NM_000251.2 | Exon 11 | c.1677_1680delAAAT | p.Asn560Lysfs | Deletion | Likely pathogenic | (+) | (−) | (−) | (+) | NA | (+) | (+) |
4 | MLH1 | NM_000249.3 | Exon 12 | c.1393dupA | p.Thr465Asnfs | Insertion | Likely pathogenic | (−) | (+) | (+) | (−) | MSI-H | (+) | (+) |
5 | MSH2 | NM_000251.2 | Exon 12 | c.1813delG | p.Val605Leufs | Deletion | Likely pathogenic | (+) | (+) | (+) | (+) | MSI-H | (−) | (−) |
6 | MSH6 | NM_000179.2 | Exon 4 | c.2598_2602delAGTAA | p.Lys866Asnfs | Deletion | Likely pathogenic | (+) | (+) | (−) | (+) | MSI-H | (−) | (−) |
7 | MSH6 | NM_000179.2 | Exon 4 | c.A1828G | p.Lys610Glu | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
8 | PMS2 | NM_000535.6 | Exon 14 | c.G2438A | p.Arg813Gln | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
9 | MSH6 | NM_000179.2 | Exon 4 | c.C926A | p.Ser309Tyr | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
10 | MSH6 | NM_000179.2 | Exon 4 | c.C926G | p.Ser309Cys | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
11 | MSH2 | NM_000251.2 | Exon 1 | c.C14A | p.Pro5Gln | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (+) | (−) |
12 | MSH6 | NM_000179.2 | Exon 4 | c.G1063A | p.Gly355Ser | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
13 | MSH6 | NM_000179.2 | Exon 2 | c.A335G | p.Asn112Ser | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
14 | MSH6 | NM_000179.2 | Exon 5 | c.C3260G | p.Pro1087Arg | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
15 | MSH6 | NM_000179.2 | Exon 10 | c.C4051G | p.His1351Asp | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |
16 | MSH6 | NM_000179.2 | Exon 4 | c.C926G | p.Ser309Cys | Missense | Uncertain significance | (+) | (+) | (−) | (+) | MSI-H | (−) | (−) |
17 | MSH6 | NM_000179.2 | Exon 4 | c.G1063A | p.Gly355Ser | Missense | Uncertain significance | (−) | (+) | (+) | (−) | MSI-H | (−) | (−) |
18 | MSH6 | NM_000179.2 | Exon 4 | c.A1828G | p.Lys610Glu | Missense | Uncertain significance | (−) | (+) | (+) | (−) | NA | (−) | (−) |
19 | MSH6 | NM_000179.2 | Exon 4 | c.A1937G | p.Lys646Arg | Missense | Uncertain significance | (−) | (+) | (+) | (−) | NA | (−) | (−) |
20 | MSH2 | NM_000251.2 | Exon 1 | c.C14A | p.Pro5Gln | Missense | Uncertain significance | (+) | (+) | (+) | (+) | MSS | (−) | (−) |