Introduction Endometrial cancer is a component of hereditary nonpolyposis colorectal carcinoma, primarily the consequence of mutations in genes involved in mismatch repair (MMR; MSH2, MLH1, PMS1, and PMS2). In addition to the repair of DNA replication errors, MMR genes have been implicated in homologous recombination repair (HRR) in yeast and in mammalian cells (1, 2). The involvement of the MM...

Introduction Endometrial cancer is a component of hereditary nonpolyposis colorectal carcinoma, primarily the consequence of mutations in genes involved in mismatch repair (MMR; MSH2, MLH1, PMS1, and PMS2). In addition to the repair of DNA replication errors, MMR genes have been implicated in homologous recombination repair (HRR) in yeast and in mammalian cells (1, 2). The involvement of the MM...

Germline mutations of the hit SI 12 gene are responsible for many cases of hereditary nonpolyposis colorectal cancer. While screening for HMSH2 gene mutations in hereditary nonpolyposis colorectal cancer kindreds, we observed that a previously reported germline mutation is in fact a com mon, alternatively spliced variant in the population. Using RT-PCR and the protein truncation test, the hMSH2...

Germline mutations of the hMSH2 gene are responsible for many cases of hereditary nonpolyposis colorectal cancer. While screening for hMSH2 gene mutations in hereditary nonpolyposis colorectal cancer kindreds, we observed that a previously reported germline mutation is in fact a common, alternatively spliced variant in the population. Using RT-PCR and the protein truncation test, the hMSH2 exon...

641 O ncology is one of the first subspecialties to experience the full impact of the genomics revolution; oncology nurses regularly use genomic science in prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness in cancer care (Mahon, 2009). Genetic tests are now routinely ordered to determine risk for developing and appropriate managem...

The purpose of this article is to review basic research as well as clinical studies on Chinese hereditary colorectal cancer. Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) accounts for 2.2% of all colorectal cancer, and Chinese criteria for suspected HNPCC have been developed. Germline mutations as well as large genomic rearrangements of mismatch repair (MMR) genes are respon...

*Corresponding author: Ladan Goshayeshi. Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. E-mail: [email protected] Tel: 985138012753 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons. org/licenses/by/3.0), which permits unrestricted use, di...

Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder. Homozygous and compound heterozygous mutations in APC, MLH1, MSH2...