Accuracy of the routine detection of mutation in mismatch repair genes in patients with susceptibility to hereditary upper urinary tract transitional cell carcinoma.

Abstract excerpt

OBJECTIVE: To establish the clinical benefits of systematic testing for hMSH6 and hMLH1 mutations in the very rare patients with upper urinary tract transitional cell carcinomas (UUT-TCCs), a clinical predisposition for hereditary tumour and no mutation detected in hMSH2 gene. PATIENTS AND METHODS: In all, 164 UUT-TCC specimen blocks were screened for microsatellite instability (MSI); 27 (16%) had high MSI...

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