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Table 2 The results of germline mutation sequencing, IHC of MMR proteins, and MSI test for the 20 patients with MMR gene mutations

From: Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China

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 (−) (−)
  1. MMR: mismatch repair; IHC: immunohistochemistry; MLH1: mutL homolog 1; MSH2: mutS homolog 2; MSH6: mutS homolog 6; MSI: microsatellite instability; PMS2: postmeiotic segregation increased 2 (S. cerevisiae); MSI-H: high-frequency microsatellite instability; MSS: microsatellite stable; NA: not available
  2. aAll the mutations are heterozygous variants