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Table 1 Number of individuals affected by three types of germline:somatic alterations in MMR genes

From: Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas

Gene

Germline LOF somatic LOF

Germline LOF somatic MISS

Germline MISS somatic LOF

MLH1

1*

  

MSH2

1*

 

1,1*

MSH6

1

 

1

PMS2

2*

1*

 

MSH5

1

  
  1. *Individual carries a ClinVar pathogenic germline variant