The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Cancer risks in A-T heterozygotes
Abstract
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 estimated 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.
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Cites
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Cited by
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Genetic and Hormonal Risk Factors in Breast Cancer
Martin, A.-M. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.14.1126 · Cited by 371
Heterozygous ATM mutations do not contribute to early onset of breast cancer
FitzGerald, M. G., Bean, J. M., Hegde, S. R., Unsal, H., MacDonald, D. J., Harkin, D. P., Finkelstein, D. M., Isselbacher, K. J., & Haber, D. A. (1997) · Nature Genetics · doi:10.1038/ng0397-307 · Cited by 340
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Cellular responses to DNA damage: cell-cycle checkpoints, apoptosis and the roles of p53 and ATM.
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Metadata
- Authors
- Easton, D. F.
- Venue
- International Journal of Radiation Biology
- Publisher
- Informa UK Limited
- Published
- 1994-01
- Volume
- 66
- Issue
- sup5
- Pages
- S177-S182
- ISSN
- 0955-3002 (ISSN-L)
- 1362-3095
- OpenAlex
- W1987060399
- Cited by
- 289
- References
- 18
- FWCI
- 9.39
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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