摘要：

THE ataxia—telangiectasia gene predisposes those carrying it to cancer; homozygotes, who have a distinctive neurologic disorder and oculocutaneous telangiectasia, have a risk of cancer 61 to 184 times higher than that in the general population.Heterozygotes constitute approximately 1 percent of the U.S. white populationbut a much higher proportion of the close blood relatives of homozygotes.Previous studies have shown that blood relatives of patients with ataxia—telangiectasia had a record of higher than expected mortality from cancer on the basis of population ratesand a higher incidence of cancer than their unrelated spouses.From retrospective comparisons of the blood relatives of patients with ataxia—telangiectasia with the relatives' spouses, we estimated that for persons heterozygous for ataxia—telangiectasia, the risk of cancer of any type was between two and six times higher than for noncarriers.

展开