Highly penetrant hereditary cancer syndromes

Oncogene. 2004 Aug 23;23(38):6445-70. doi: 10.1038/sj.onc.1207714.


The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Approximately 5-10% of all cancers are inherited, the majority in an autosomal dominant manner with incomplete penetrance. While this is a small fraction of the overall cancer burden worldwide, the molecular genetic discoveries that have resulted from the study of families with heritable cancer have not only changed the way these families are counselled and managed, but have shed light on molecular regulatory pathways important in sporadic tumour development as well. In this review, we consider 10 of the more highly penetrant cancer syndromes, with emphasis on those predisposing to breast, colon, and/or endocrine neoplasia. We discuss the prevalence, penetrance, and tumour spectrum associated with these syndromes, as well as their underlying genetic defects.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics
  • Colonic Neoplasms / epidemiology
  • Colonic Neoplasms / genetics
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics
  • Endocrine Gland Neoplasms / epidemiology
  • Endocrine Gland Neoplasms / genetics
  • Genetic Predisposition to Disease / genetics*
  • Global Health
  • Humans
  • Incidence
  • Neoplasms / epidemiology*
  • Neoplasms / genetics*