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PMS2  is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes,  MLH1 ,  MSH2 , and  MSH6 , account for approximately 90% of LS, while a relatively small number of LS families segregate a  PMS2  mutation. This and the low cancer penetrance in  PMS2  families suggest that  PMS2  is only a moderate or low‐risk susceptibility gene. We have previously shown that even a partial expression decrease in  MLH1 ,  MSH2 , or  MSH6  suggests that heterozygous LS mutation carriers have MMR malfunction in constitutive tissues. Whether and how  PMS2  expression decrease affects the repair capability is not known. Here, we show that  PMS2  knockdown cells retaining 19%, 33%, or 53% of  PMS2  expression all have significantly reduced MMR efficiency. Surprisingly, the cells retaining expression levels comparable to  PMS2  mutation carriers indicate the lowest repair efficiency.

PMS2 expression decrease causes severe problems in mismatch repair