| abstract |
(57) Summary The present inventors have now discovered that eukaryotes, including mammals, have DNA mismatch repair pathways similar to those present in bacteria. Defects or alterations in this mismatch repair pathway in mammals such as humans result in the accumulation of unstable repetitive DNA sequences. Such phenotypes have a high correlation with disease states in many cancers, such as genetic colon cancer. Therefore, finding defects or alterations in this pathway can be diagnostic for cancer predisposition and prognosis for specific cancers. We have also discovered and sequenced one of the genes in this pathway in many mammals, including humans. This gene is referred to herein as MSH2 and has many applications. The gene can be used in assays, gene product expression, drug screening, and clinical. We also disclose herein methods for screening other genes in this mismatch repair pathway. |