The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Breast and Other Cancers in Families with Ataxia-Telangiectasia
Abstract
Patients who are homozygous for ataxia-telangiectasia have an exceptionally high incidence of cancer. In a group of families expected to have a high proportion of heterozygotes for ataxia-telangiectasia, we tested the hypothesis that such heterozygotes, estimated to make up 0.68 to 7.7 percent of the U.S. white population, also have an excess cancer risk. Retrospective cancer incidence rates in adult blood relatives of patients with ataxia-telangiectasia in 110 white non-Amish families were significantly elevated over the incidence rates in spouse controls (rate ratios, 1.6 for men [P = 0.032]; 2.0 for women [P = 0.013]). For persons who are heterozygous for ataxia-telangiectasia, the relative risk of cancer was estimated to be 2.3 for men (P = 0.014) and 3.1 for women (P = 0.004). Breast cancer in women was the cancer most clearly associated with heterozygosity for ataxia-telangiectasia (rate ratio, 3.0 [P = 0.028]; heterozygote relative risk, 6.8 [P = 0.006]). On the basis of this estimated relative risk of 6.8 and an estimated heterozygote frequency in the general population of 1.4 percent, 8.8 percent of patients with breast cancer in the U.S. white population would be heterozygous for ataxia-telangiectasia. We conclude that heterozygous carriers of the gene for ataxia-telangiectasia have an excess risk of cancer, particularly breast cancer in women.
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Self-citationBreast Cancer in Women After Repeated Fluoroscopic Examinations of the Chest2
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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., et al. (1995) · Science · doi:10.1126/science.7792600 · Cited by 2,785
ATR: an essential regulator of genome integrity
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Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells
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Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia
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Self-citation
Metadata
- Authors
- Swift, M., Reitnauer, P. J., Morrell, D., & Chase, C. L.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1987-05-21
- Volume
- 316
- Issue
- 21
- Pages
- 1289-1294
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2037355114
- Cited by
- 719
- References
- 14
- FWCI
- 11.01
- Type
- journal article
- Language
- en
- Open access
- closed
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