Defining the criteria for identifying constitutional epimutations.
In the January 2016 issue of Clinical Epigenetics, Quiñonez-Silva et al. (Clin Epigenetics 8:1, 2016) described a possible constitutional epimutation of the RB1 gene as a cause of hereditary predisposition to retinoblastoma. The term constitutional epimutation describes an epigenetic aberration in normal tissues that predisposes to disease. The data presented by Quiñonez-Silva et al. are interesting, but further analysis is required to demonstrate a constitutional epimutation in this family. Here, we define the criteria and describe the experimental approach necessary to identify an epigenetic aberration as a constitutional epimutation.
Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, UNSW Australia, Kensington, Sydney, New South Wales 2052 Australia.
Mathew A
MA
Sloane
The University of Queensland, Level 3 Brian Wilson Chancellery, Brisbane, Queensland 4072 Australia.
Robyn L
RL
Ward
Adult Cancer Program, Lowy Cancer Research Centre and Prince of Wales Clinical School, UNSW Australia, Kensington, Sydney, New South Wales 2052 Australia.
Luke B
LB
Hesson
D019175:DNA Methylation; D044127:Epigenesis, Genetic; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation
Constitutional epimutation; Methylation; RB1; Retinoblastoma