Table 1.

MMR status in the eight tumors from the TCGA dataset with SAMHD1 mutation

Amino acid substitutionMMR heterozygous LOFMLH1 methylation
V133I_1MLH3 (fs)MLH1 (d)
V133I_2MLH1 (fs)
A338T
A338VMLH3 (fs)MLH1 (d)
R366HMLH1 (fs)MLH1 (s)
D497YMLH3 (ns)
A525TMLH1 (fs)
K596fs
  • Loss-of-function mutations (LOF) in MLH1, MLH3, MSH2, and MSH6 and promoter methylation of MLH1 were included in the analysis. d, both alleles methylated; fs, frameshift; ns, nonsense; s, one allele methylated.