A687V EZH2 is a gain-of-function mutation found in lymphoma patients.

@article{Majer2012A687VEI,
  title={A687V EZH2 is a gain-of-function mutation found in lymphoma patients.},
  author={Christina R A Majer and Lei Jin and Margaret Porter Scott and Sarah K. Knutson and Kevin W. Kuntz and Heike Keilhack and Jesse J Smith and Mikel P. Moyer and Victoria M. Richon and Robert A Copeland and Tim J. Wigle},
  journal={FEBS letters},
  year={2012},
  volume={586 19},
  pages={3448-51}
}
Heterozygous point mutations at Y641 and A677 in the EZH2 SET domain are prevalent in about 10-24% of Non-Hodgkin lymphomas (NHL). Previous studies indicate that these are gain-of-function mutations leading to the hypertrimethylation of H3K27. These EZH2 mutations may drive the proliferation of lymphoma and make EZH2 a molecular target for patients harboring these mutations. Here, another EZH2 SET domain point mutation, A687V, occurring in about 1-2% of lymphoma patients, is also shown to be a… CONTINUE READING
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