USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Hereditary nonpolyposis colorectal cancer (Lynch syndrome)
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- HNPCC results from a mutation in MLH1 or MSH2 (enzymes that carry out DNA mismatch repair)
- individual may inherit one deleted copy of MLH1/MSH2. After birth, somatic mutation in the other copy may occur --> retained errors in many other loci, microsatellite instability
- manifested in intestinal cells because they are constantly undergoing cell division
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