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Table 1 Co-existed MLH1 hypermethylation and mismatch repair genes germline mutations

From: Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review

  

IHC

   
 

Tumor

MLH1

MSH2

MSH6

PMS2

MSI

BRAF V600E mutation

MLH1 promoter methylation

Germline mutation

Hagen et al. [11]

CRC

–

–

–

–

N/A

Wild-type

+

MSH2 mutation

Raymond et al. [12]

CRC

–

+

–

–

MSI-H

Wild-type

+

MSH6 mutation

Rahner et al. [13]

CRC

–

+

+

–

MSI-H

N/A

+

MLH1 mutation

Yokoyama et al.

EC

–

+

+

–

N/A

N/A

+

MLH1 mutation

  1. CRC colorecral cancer, EC uterine endometrial cancer, N/A not available
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BMC Cancer

ISSN: 1471-2407

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