Genomic imprinting syndromes and cancer

Adv Genet. 2010;70:145-75. doi: 10.1016/B978-0-12-380866-0.60006-X.


Genomic imprinting represents a form of epigenetic control of gene expression in which one allele of a gene is preferentially expressed according to the parent-of-origin of the allele. Genomic imprinting plays an important role in normal growth and development. Disruption of imprinting can result in a number of human imprinting syndromes and predispose to cancer. In this chapter, we describe a number of human imprinting syndromes to illustrate the concepts of genomic imprinting and how loss of imprinting of imprinted genes their relationship to human neoplasia.

Publication types

  • Review

MeSH terms

  • Animals
  • Beckwith-Wiedemann Syndrome / genetics
  • Beckwith-Wiedemann Syndrome / physiopathology
  • Chromatin / genetics
  • CpG Islands / genetics
  • DNA Copy Number Variations
  • DNA Methylation*
  • Diabetes Mellitus / genetics
  • Diabetes Mellitus / physiopathology
  • Epigenesis, Genetic*
  • Female
  • Gene Expression Regulation*
  • Genomic Imprinting*
  • Humans
  • Male
  • Mutation
  • Neoplasms / genetics*
  • Reproductive Techniques, Assisted / adverse effects
  • Silver-Russell Syndrome / genetics
  • Silver-Russell Syndrome / physiopathology
  • Syndrome


  • Chromatin