Article
Making sense of missense in Lynch syndrome: the clinical perspective.
Cancer prevention research (Philadelphia, Pa.) - 1 Nov 2010
Lynch Henry T, Jascur Thomas, Lanspa Stephen, Boland C Richard
Abstract excerpt
The DNA mismatch repair (MMR) system provides critical genetic housekeeping, and its failure is associated with tumorigenesis. Through distinct domains on the DNA MMR proteins, the system recognizes and repairs errors occurring during DNA synthesis, but signals apoptosis when the DNA damage cannot be repaired. Certain missense mutations in the MMR genes can selectively alter just one of these functions. This...
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