Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

Clin Genet. 2015 Jul;88(1):13-24. doi: 10.1111/cge.12517. Epub 2014 Nov 10.

Abstract

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects.

Keywords: Fanconi anaemia; bone marrow failure; cancer; congenital abnormalities.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Congenital Abnormalities / diagnosis
  • Disease Management
  • Fanconi Anemia / complications
  • Fanconi Anemia / diagnosis
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / therapy
  • Female
  • Gene-Environment Interaction
  • Humans
  • Male
  • Neoplasms / etiology
  • Neoplasms / genetics*
  • Phenotype