Fanconi anemia in Ashkenazi Jews. Review uri icon

Overview

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 date

  • January 1, 2004

Research

keywords

  • Fanconi Anemia
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Jews
  • Mutation

Identity

Scopus Document Identifier

  • 8544271687

Digital Object Identifier (DOI)

  • 10.1007/s10689-004-9565-8

PubMed ID

  • 15516848

Additional Document Info

volume

  • 3

issue

  • 3-4