Role of the ataxia-telangiectasia gene (ATM) in breast cancer

BMJ 1998;317:486-487 ( 22 August )

Editorials

Role of the ataxia-telangiectasia gene (ATM) in breast cancer

A-T heterozygotes seem to have an increased risk but its size is unknown

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Genetic predisposition accounts for 5-10% of breast cancer, and two genes $---$ BRCA1 and BRCA2 $---$ have attracted most attention ashigh risk factors.¹ However, these two genes probably accountfor only a small proportion of the genetic risk while other morecommon but less penetrant genes may explain the remainder of geneticallypredisposed breast cancers.² One such candidate is the gene,ATM, mutated in the human genetic disorder ataxia-telangiectasia(A-T).³ A-T heterozygotes (estimated to be 1% of the population)do not show any of the major symptoms of the disease, though thereis good evidence that they have an underlying cellular radiosensitivity,but to a lesser extent than observed in A-T homozygotes.⁴ Theseobservations, together with earlier epidemiological studies, reveala raised incidence of mortality from cancer among blood relationsof patients with ataxia-telangiectasia, with the greatest relativerisk for breast cancer (5.1) in female relatives of patients.⁵

An association between . . . [Full text of this article]

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