publication . Article . 2009

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch Syndrome

Poulogiannis , George; Frayling , Ian; Arends , Mark;
Open Access English
  • Published: 23 Dec 2009
  • Publisher: Wiley
Abstract
International audience; DNA mismatch repair (MMR) deficiency is one of the best understood forms of genetic instability in colorectal cancer (CRC), and is characterised by the loss of function of the MMR pathway. Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI). A high frequency of instability at microsatellites (MSI-H) is the hallmark of the most common form of hereditary susceptibility to CRC, known as Lynch Syndrome (previously known as...
Subjects
mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalitiesdigestive system diseasesneoplasms
free text keywords: Medicine

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publication . Article . 2009

DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch Syndrome

Poulogiannis , George; Frayling , Ian; Arends , Mark;