Making sense of missense in Lynch syndrome: the clinical perspective.
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.
Lynch
Henry T
HT
Department of Preventive Medicine and Public Health, Creighton University, Omaha, Nebraska 68131, USA. htlynch@creighton.edu
Jascur
Thomas
T
Lanspa
Stephen
S
Boland
C Richard
CR
D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics*; D006801:Humans; D009154:Mutation