"Based on the evidence from this study," says Mutch, "we concluded that mutations in the MSH6 gene may increase the risk of developing certain malignancies. Molecular testing can determine which women with endometrial cancer have the mutation, and genetic testing can determine which family members...
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered Cancer Clin Pract. 2010;8:5.Talseth-Palmer, BA, McPhillips, M, Groombridge, C, Spigelman, A, Scott, RJ (2010) MSH6 and PMS2 mutation positive...
Lynch syndrome is the most common inherited cause of colorectal cancer (CRC). Contemporary and mutation-specific estimates of CRC-risk in patients undergoing colonoscopy would optimize surveillance strategies. We performed a prospective national cohort study, using data from New Zealand, to assess ...
The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers. Methods: Mutation analysis was performed in 20 families with a germline mutation in MSH6. We compared the cancer risks between MSH6 and MLH1/MSH2 mutation carriers. ...
Mice carrying a null mutation in the mismatch repair gene Msh6 were generated by gene targeting. Cells that were homozygous for the mutation did not produce any detectable MSH6 protein, and extracts prepared from these cells were defective for repair of single nucleotide mismatches. Repair of 1, ...
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer i...
rentkindsofcolorectalcancer.MethodsT hepapersaboutMSH6mutationswerereview ed,informationwasderivedfromstudiespu blishedbetween1997and2005,anddatawer eanalyzedbystatisticalmethods.Result sMSH6mutationfrequenciesinallcolorec talcancerpatients,HNPCC,suspectedHNPC 2 Candsporadicpatientswere4.39%,4.23%, 5.61%and1.10...
Results MSH6 mutation in all endometrial cancer patients was 9.77%; Substitute mutation and frameshift mutation were the main types of the mutation, and each mutation frequency was 1.70%; exon 4 was the main mutable site, and the mutation frequency was 3.69%; the mean age at onset of MSH6 ...
Thus, MSH6 protein may play a subtly different biochemical role in mismatch repair than MLH1 or MSH2 proteins, as evidenced by the difference in cancer risk and the more frequent instability of mononucleotide repeats compared with dinucleotide repeats in tumors from MSH6 mutation carriers (18). ...
1.Shia J.(2008).Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn.Doi: 10.2353/jmoldx.2008.080031. ...