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Comment
. 2010 Nov;3(11):1371-4.
doi: 10.1158/1940-6207.CAPR-10-0204. Epub 2010 Oct 26.

Making sense of missense in Lynch syndrome: the clinical perspective

Henry T Lynch  1 , Thomas Jascur, Stephen Lanspa, C Richard Boland
Affiliations
Comment

Making sense of missense in Lynch syndrome: the clinical perspective

Henry T Lynch et al. Cancer Prev Res (Phila). 2010 Nov.

Abstract

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 affects the clinical features of tumors associated with defective DNA MMR activity. New work reported by Xie et al. in this issue of the journal (beginning on page 1409) adds to the understanding of DNA MMR.

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Conflict of interest statement

Disclosure of Potential Conflicts of Interest

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References

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