source: Annals of oncology

year: 2013

authors: Balmaña J, Balaguer F, Cervantes A, Arnold D, ESMO Guidelines Working Group

Lynch syndrome is the most common hereditary colorectal cancer (CRC) syndrome and it accounts for ∼1%–3% of all CRC burden. The syndrome is transmitted with an autosomal-dominant pattern, and it is associated with mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2. These alterations lead to tumour DNA microsatellite instability (MSI) and foster inactivating mutations in tumour suppressors containing microsatellites in the coding regions (i.e. TGFBR2 and BAX) . Mutations in the MMR genes may lead to a loss of expression of the corresponding protein and be detected by immunohistochemistry techniques (IHCs).