Familial Cancer

, Volume 3, Issue 3, pp 241–248

Fanconi anemia in Ashkenazi Jews

  • David I. Kutler
  • Arleen D. Auerbach

DOI: 10.1007/s10689-004-9565-8

Cite this article as:
Kutler, D.I. & Auerbach, A.D. Familial Cancer (2004) 3: 241. doi:10.1007/s10689-004-9565-8


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.

BRCA2cancer predispositioncongenital malformation syndromeFANCAFANCCFanconi anemiaJewish genetic disease

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • David I. Kutler
    • 1
  • Arleen D. Auerbach
    • 2
  1. 1.Department of OtolaryngologyNew York University Medical CenterUSA
  2. 2.Laboratory of Human Genetics and HematologyThe Rockefeller UniversityNew YorkUSA