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Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

✍ Scribed by Drost, Mark; Koppejan, Hester; de Wind, Niels


Book ID
125481192
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
416 KB
Volume
34
Category
Article
ISSN
1059-7794

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Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is caused by DNA variations in the DNA mismatch repair (MMR) genes MSH2, MLH1, MSH6, and PMS2. Many of the mutations identified result in premature termination of translation and thus in loss-of-function of the encoded mutated prote