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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