Fanconi anemia in Ashkenazi Jews

Fam Cancer. 2004;3(3-4):241-8. doi: 10.1007/s10689-004-9565-8.

Abstract

Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi.

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Fanconi Anemia / ethnology*
  • Fanconi Anemia / genetics*
  • Female
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / ethnology*
  • Genotype
  • Humans
  • Incidence
  • Jews / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Sex Distribution