However MSH6 mutation carriers were reported to have tumours without an MSI-high pattern (Berends et al, 2002; Hendriks et al, 2004; Plaschke et al, 2004), whereas in MLH1 and MSH2 mutation carriers almost all HNPCC-associated tumours show MSI (Lynch and Lynch, 2005). The gene discussed is MSH6; the disease is neoplasm.