In the Lynch syndrome tumour screening programme reported by Moline et al., Lynch syndrome was confirmed by mutation testing in 8 patients, of whom 2 had mutations in MLH1, 2 in MSH2, 2 in MSH6 and 2 in PMS2. 76 Three additional patients had tumour testing IHC results strongly suggestive of Lynch syndrome (lack of MSH2/MSH6 by IHC) but no mutations could be found. The gene discussed is MSH2; the disease is neoplasm.