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Table 2 Microsatellite status and immunohistochemical staining of tumor tissue, result of sequencing analysis in all investigated patients.

From: HNPCC: Six new pathogenic mutations

Patient ID

MS-status

Immunohistochemical staining of tumor tissue

Gene

Exon

Mutation

Length of predicted protein after truncation

0546-2

MSI-H

MLH1 neg, MSH2 pos, MSH6 pos

MLH1

19

c.2198_2199insAACA [p.N733fsX745]

Cd 745

0699-3

MSI-H

MLH1 neg, MSH2 pos, MSH6 pos

MLH1

18

c.2076_2077delTG [p.G693fsX702]

Cd 702

0545-0

MSI-H

MSH2 neg, MSH6 neg, MLH1 pos

MSH2

5

c.810_811delGT [p.C271fsX282]

Cd 281

0729-5

MSI-H

MSH2 red, MSH6 neg, MLH1 pos

MSH2

4

c.763_766delAGTGinsTT [p.F255fsX282]

Cd 282

0660-6

MSI-H

MSH2 neg, MSH6 neg, MLH1 pos

MSH2

5

c.873_876delGACT [p.L292fsX298]

Cd 299

0531-X

MSI-H

MSH2 pos, MSH6 neg, MLH1 pos.

MSH6

4

c.1421_1422dupTG [p.C475fsX480]

Cd 480

  1. Cd codon, MS = microsatellite status, pos = staining of >10% tumor cells, red = staining of 1–10% tumor cells, neg = staining of <1% of tumor cells, n.d. = not done