Genomic alterations in Turcot syndrome: Insights from whole exome sequencing

Turcot's syndrome (TS) was originally described as familial predisposition to cancer of the large bowel and brain [1], and is a phenotypic variant of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). HNPCC is caused by germline mutations in one of the DNA mismatch-repair (MMR)-genes MLH1, PMS1, PMS2, MSH2, or MSH6. Identification of HNPCC is based upon clinicopathological features including MMR-deficiency determined by immunohistochemistry or microsatellite instability (MSI)-analysis. Lifetime brain tumor risk in HNPCC is 3%.

from Journal of the Neurological Sciences https://ift.tt/3jBqBkS