Cancer predisposition of ataxia-telangiectasia heterozygotes

Cancer Genet Cytogenet. 1990 May;46(1):21-7. doi: 10.1016/0165-4608(90)90004-t.

Abstract

Ataxia-telangiectasia (A-T) is a progressive neurologic disorder in which there is varied immune dysfunction, an excess sensitivity to ionizing radiation, and a striking predisposition to cancer. It is the autosomal recessive syndrome for which there is the strongest evidence, derived from retrospective studies of cancer incidence and mortality in A-T families, that the heterozygote is predisposed to cancer. We present, in tabular form, the specific cancer sites or types most likely to be associated with A-T heterozygosity. These include solid tumors of the breast, pancreas, stomach, bladder, and ovary, and chronic lymphocytic leukemia. We also introduce a new method to test these associations. As soon as molecular probes for the A-T allele(s) are available, this new research design will be used to test rigorously each association, hypothesized on the basis of previous data, between a specific cancer site and A-T heterozygosity.

Publication types

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

MeSH terms

  • Ataxia Telangiectasia / complications
  • Ataxia Telangiectasia / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Male
  • Neoplasms / complications
  • Neoplasms / genetics*