MMR genes mutations (MSH6)
MSH6 gene (MutS homolog 6), located on 2p16, encodes a protein that forms a complex with the MMR genes encoded proteins, which coordinates the activity of other proteins that repair DNA replication errors. MSH6 protein binds to the MSH2 protein to form an active complex, if are mutations the abnormal protein cannot properly do its function. Mutations of this gene have been found in 10% of cases of Lynch syndrome. 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.
