Specific mutations in H3F3A and H3F3B, the two genes that encode histone 3.3 (H3.3) proteins, have been identified in two rare tumour types: 73 of 77 cases of chondroblastoma had a Lys36Met amino acid change predominantly in H3F3B, and 49 of 53 cases of giant cell tumour of bone had a Gly34 to Trp or Leu change in H3F3A. Importantly, these mutations occurred in the stromal cells and not in osteoclasts or their precursors. Moreover, these mutations are different from those identified in H3F3A in childhood brain cancers in which Lys27 is mutated to Met and Gly34 is changed to Arg or Val, suggesting that H3.3 driver mutations are specific for each tumour type.
References
Behjati, S. et al. Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nature Genet. http://dx.doi.org/10.1038/ng.2814 (2013)
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McCarthy, N. Bespoke mutations. Nat Rev Cancer 13, 823 (2013). https://doi.org/10.1038/nrc3642
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DOI: https://doi.org/10.1038/nrc3642
