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Ropero, S, Fraga, MF, Ballestar, E, Hamelin, R, Yamamoto, H, Boix-Chornet, M, Caballero, R, Alaminos, M, Setien, F, Paz, MF, Herranz, M, Palacios, J, Arango, D, Orntoft, TF, Aaltonen, LA, Schwartz, S Jr and Esteller, M (2006) A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition. Nat. Genet. 38:566-9


Disruption of histone acetylation patterns is a common feature of cancer cells, but very little is known about its genetic basis. We have identified truncating mutations in one of the primary human histone deacetylases, HDAC2, in sporadic carcinomas with microsatellite instability and in tumors arising in individuals with hereditary nonpolyposis colorectal cancer syndrome. The presence of the HDAC2 frameshift mutation causes a loss of HDAC2 protein expression and enzymatic activity and renders these cells more resistant to the usual antiproliferative and proapoptotic effects of histone deacetylase inhibitors. As such drugs may serve as therapeutic agents for cancer, our findings support the use of HDAC2 mutational status in future pharmacogenetic treatment of these individuals.


PubMed Online version:10.1038/ng1773


Amino Acid Sequence; Antineoplastic Agents/therapeutic use; Apoptosis; Cell Cycle; Drug Resistance, Neoplasm/genetics; Electrophoresis, Capillary; Enzyme Inhibitors/pharmacology; Histone Deacetylase 2; Histone Deacetylase Inhibitors; Histone Deacetylases/chemistry; Histone Deacetylases/genetics; Humans; Molecular Sequence Data; Mutation; Neoplasms/drug therapy; Neoplasms/enzymology; Neoplasms/genetics; Neoplasms/pathology; RNA, Small Interfering; Repressor Proteins/antagonists & inhibitors; Repressor Proteins/chemistry; Repressor Proteins/genetics



Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status



GO:0004407: histone deacetylase activity

ECO:0000314: direct assay evidence used in manual assertion


Seeded From UniProt


See also


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