MMR genes mutations (MSH2)
MSH2 (MutS, homolog 2) gene located on region 2p21, leads a protein that coordinates DNA repair function in a similar way as described for the MLH1 gene. MSH2 protein binds to two other proteins, MSH6 and MSH3, and the complex coordinates the action of other repair proteins, as described for the MLH1 protein. When the gene has mutations, the abnormal protein cannot properly execute its role. Mutations in this gene have been found in 40% of Lynch syndrome cases. The existence of these mutations also involve greater risk of developing other cancers, such as endometrium, ovary, stomach, small intestine, liver, gallbladder, upper urinary tract and brain cancer. Turcot syndrome (brain glioblastoma plus colorectal cancer) and CoLoN syndrome (Colon cancer, Leukemia or Lymphoma, and Neurofibromatosis) can also appear.
