Cancer risks in A-T heterozygotes.
Cancer risks in A-T heterozygotes.
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DOI：
10.1080/09553002.1994.11772027
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发表时间：
1994
影响因子：
2.6
通讯作者：
D. Easton
中科院分区：
文献类型：
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作者：
D. Easton
众所周知，共济失调-毛细血管扩张症(A-T)患者患癌症的风险大大增加，特别是淋巴瘤和白血病，但在A-T突变杂合子携带者中癌症风险过高的可能性更具争议性。许多研究表明，A-T患者的女性亲属患乳腺癌的风险过高；基于现有所有现有数据的综述，估计A-T杂合子患乳腺癌的相对风险为3.9倍(95%可信区间2·1-7·2)。有一些迹象表明，相对风险会随着年龄的增长而下降。相比之下，没有一致的证据表明任何其他癌症的风险；所有研究的估计风险为1.9(95%可信区间1·5-2.5)，但一些研究显示出更大的影响，而另一些研究则没有显示出额外的风险。根据这些结果和A-T基因的可能频率，A-T杂合子将占乳腺癌病例的1%至13%，最佳估计为3.8%。然而，除非严重低估了乳腺癌的风险，否则A-T基因对家族性乳腺癌的作用很小。
It is well established that ataxia-telangiectasia (A-T) patients suffer a grossly elevated risk of cancer, particularly lymphoma and leukaemia, but the possibility of an excess cancer risk of cancer in heterozygotes carriers of A-T mutations is more controversial. A number of studies indicate that female relatives of A-T patients suffer excess risk of breast cancer; based on an overview of all currently available data the esti-mated relative risk of breast cancer to A-T heterozygotes is 3·9-fold (95%CI 2·1-7·2). There is some suggestion that relative risk declines with age. In contrast, there is no consistent evidence of a risk from any other cancer; the estimated risk from all studies is 1·9 (95%CI 1·5-2·5) but some studies show a larger effect whilst others show no excess risk. On the basis of these results and the likely frequency of the A-T gene, A-T heterozygotes would account for between 1 and 13% of breast cancer cases, with 3·8% being the best estimate. However, unless the breast cancer risk has been seriously underestimated, the A-T gene will make little contribution to familial breast cancer.