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Cancer risks in A-T heterozygotes

D F Easton1

  • 1Section of Epidemiology, Institute of Cancer Research, Belmont, UK.

International Journal of Radiation Biology
|December 1, 1994
PubMed
Summary
This summary is machine-generated.

Women who carry a mutation for ataxia-telangiectasia (A-T) have a significantly higher risk of developing breast cancer. This genetic carrier status may contribute to a notable percentage of all breast cancer cases.

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Area of Science:

  • Genetics
  • Oncology
  • Cancer Epidemiology

Background:

  • Ataxia-telangiectasia (A-T) patients have a high cancer risk, particularly lymphoma and leukemia.
  • The cancer risk for heterozygote carriers of A-T mutations is less understood.
  • Previous studies suggest female A-T heterozygotes may have an increased risk of breast cancer.

Purpose of the Study:

  • To evaluate the cancer risk in individuals carrying a single copy of a mutated ataxia-telangiectasia gene (heterozygotes).
  • To specifically assess the association between A-T heterozygosity and breast cancer risk.
  • To estimate the contribution of A-T heterozygotes to the overall breast cancer burden.

Main Methods:

  • Systematic review and meta-analysis of existing studies on cancer risk in A-T heterozygotes.

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  • Calculation of relative risk (RR) and confidence intervals (CI) for various cancers.
  • Estimation of the proportion of breast cancer cases attributable to A-T heterozygosity.

    • Main Results:

    • A significant 3.9-fold increased relative risk of breast cancer was observed in A-T heterozygotes (95% CI 2.1-7.2).
    • The relative risk of breast cancer may decrease with advancing age.
    • No consistent evidence of increased risk for other cancers was found in A-T heterozygotes.
    • A-T heterozygotes are estimated to account for 3.8% of all breast cancer cases.

    Conclusions:

    • Heterozygosity for ataxia-telangiectasia mutations confers a substantial increased risk of breast cancer in women.
    • A-T heterozygotes represent a significant, though not the primary, factor in familial breast cancer.
    • Further research may be needed to clarify the age-dependent risk and the contribution to familial breast cancer.
    • The A-T gene likely plays a modest role in the overall incidence of familial breast cancer unless current risk estimates are significantly underestimated.