This is an autosomal dominant highly penetrant cancer-susceptibility syndrome causedby germline mutations inone oftheDNAmismatch repair genes, MLH1, MSH2, MSH6, PMS2 and PMS 1. Affected individuals have apredispositionto developing early onset colorectal cancer and endometrial cancer, and less commonly ovarian, small intestine, stomach, biliary tract, pancreatic, brain and uroepithelial tract c...

PURPOSE Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6. PATIENTS AND METHODS Data were pooled fr...

Introduction : Aberrant expression of CK7/CK20/CDX2 is reported in percentage colorectal carcinomas (CRC). Aim The objective this study was to investigate specific morphological and immunohistochemical characteristics carcinoma with KRAS mutation status microsatellite instability. Materials methods Seventy-one patients CRC examined were included the investigation. Immunohistochemistry performed...

Abstract Muir–Torre syndrome is a rare variant of hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome. It caused by defect in mismatch repair genes, which are most commonly inherited an autosomal dominant fashion. characterized clinically sebaceous neoplasms the skin associated with at least one visceral malignancy, colon cancer being frequent. The common genetic defects res...

Instability of microsatellite repeat sequences has been observed in colorectal carcinomas and in extracolonic malignancies, predominantly endometrial tumours, occurring in the context of hereditary non-polyposis colorectal cancer (HNPCC). Microsatellite instability (MSI) as a feature of human DNA mismatch repair (MMR)-driven tumourigenesis of the uterine mucosa has been studied primarily in spo...

BACKGROUND There is evidence that colorectal cancers (CRC) with DNA mismatch repair deficiency (MMR-D) are associated with a better prognosis than the generality of large bowel malignancies. Since an active immune surveillance process has been demonstrated to influence CRC outcome, we investigated whether MMR-D can enhance the immune response in CRC. PATIENTS AND METHODS A group of 113 consec...