Mutations of hMLH1 and hMSH2 in Patients With Suspected Hereditary Nonpolyposis Colorectal Cancer: Correlation With Microsatellite Instability and Abnormalities of Mismatch Repair Protein Expression

• DOI: 10.1200/jco.2002.20.5.1203
• Publication Date: 2017-02-24T08:51:36Z
• Authors: Mario Scartozzi; Francesca Bianchi; Saverio Rosati; Eva Galizia; Annalisa Antolini; Cristian Loretelli; Andrea Piga; Italo Bearzi; Riccardo Cellerino; Emilio Porfiri
• Keywords: Microsatellite Instability; Lynch Syndrome

PURPOSE: The relationship between germ-line mutations of hMSH2 and hMLH1, microsatellite instability (MSI), loss DNA mismatch repair (MMR) gene expression were studied to formulate an effective selection protocol for patients with suspected hereditary nonpolyposis colorectal cancer who should be offered genetic testing. PATIENTS AND METHODS: Patients eligible analysis hMLH1 selected. Tumor specimens obtained assess MSI MMR expression. RESULTS: Among 37 participated in the study, two missense (11%) detected, none which was found a panel 60 healthy volunteers. High five tumors (19%) low 10 (39%); 12 (46%) stable. Four demonstrated three protein CONCLUSION: No MSI; or no four mutations, high abnormalities genes. On contrary, from demonstrating mutations. These data suggest that can occur people MSI-negative tumors. Sensitive clinical criteria study may useful identify this subset patients.