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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