Fig. 5

Recurrent PMS2 mutations are associated with increased mutation burden and are stratified by disease type. a Location of recurrent PMS2 promoter mutations upstream of the transcription start site. Locations showing multiple dinucleotide events are marked with a blue box. b Mutation burden in PMS2 mutant versus wild-type specimens. For the indicated disease and selected mutation or collection of mutations, tumors were classified as Mut + or Mut−. Mutation burden for these two sample populations is plotted. Whiskers extend to the highest value that is within 1.5 × IQR of the hinge, where IQR is the inter-quartile range, or distance between the first and third quartiles. Points beyond this are not shown. c Percentage of specimens with PMS2 promoter mutations in select disease types. The percentage of specimens with any of the PMS2 promoter mutations is plotted