Epimutations and cancer predisposition: importance and mechanisms.
Germline sequence mutations in tumour suppressor genes can cause cancer predisposition syndromes. More recently, epimutations have also been proposed to cause at least one such syndrome, hereditary non-polyposis colorectal cancer (HNPCC). 'Epigenetic predisposition', is defined as an inherited propensity to an altered epigenetic state in normal tissues that confers a predisposition to disease. Genetic sequence variations acting in cis or trans may contribute to epigenetic variations. Understanding the origin of epimutations will inform cancer risk assessment and will also aid the design and application of new therapies that target the epigenome.
Hesson
Luke B
LB
Lowy Cancer Research Centre and Prince of Wales Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
Hitchins
Megan P
MP
Ward
Robyn L
RL
D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D044127:Epigenesis, Genetic; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008957:Models, Genetic; D009369:Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide