European licensing of maintenance treatment in schizophrenia

摘要

Lynch syndrome is a hereditary disease that predisposes to cancer and is caused by germline mutations in DNA mismatch repair (MMR) genes. The disease is inherited in a classic Mendelian dominant way, but tumours act like a recessive disease-a somatic mutation is needed to inactivate the uninvolved allele. Individuals with Lynch syndrome are phenotypically normal at birth, but carry a silent germline mutation. At some point in the individual's development, the so-called second hit occurs, which initiates the progression towards pathways. Thus, the RAS and MAPK pathways might fall victim to sporadic activating mutations, such as V600E, which causes constitutive activation of the BRAF oncogene.