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Cited by 196

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Association of a Common Variant of the CASP8 Gene With Reduced Risk of Breast Cancer

Open access
MacPherson, Gordon, Healey, Catherine S., Teare, M. Dawn, Balasubramanian, Sabapathy P., Reed, Malcolm W. R., Pharoah, Paul D. P., Ponder, Bruce A. J., Meuth, Mark, Bhattacharyya, Nitai P., Cox, Angela·2004·JNCI: Journal of the National Cancer Institute

Abstract

Apoptosis, or programmed cell death, is perturbed in many cancers. We tested the hypothesis that coding polymorphisms of the death receptor 4 (DR4), caspase-8 (CASP8), and caspase-10 (CASP10) genes might act as low-penetrance breast cancer genes. Single-nucleotide polymorphisms (SNPs) of these genes were genotyped in a series of 999 breast cancer case patients and 996 control subjects from Sheffield, U.K., and in a second, independent U.K. population of 2192 case patients and 2262 control subjects from East Anglia. In the Sheffield study, the rare H allele of CASP8, D302H, was associated with a reduced risk of breast cancer in a dose-dependent manner (P(trend) = .007). Furthermore, the CASP8 D302H association, but not that of the other CASP8 SNPs examined (T21914C, G50121A, and G50358A), was replicated in the East Anglian study. The combined adjusted odds ratios for breast cancer were 0.83 (95% confidence interval [CI] = 0.74 to 0.94) for the DH heterozygote and 0.58 (95% CI = 0.39 to 0.88) for the HH homozygote (P(trend) = .0002, adjusted for study). The reproducible, dose-dependent association of CASP8 D302H with breast cancer indicates the potential importance of inherited variation in the apoptosis pathway in breast cancer susceptibility.

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Metadata

Authors
MacPherson, G., Healey, C. S., Teare, M. D., Balasubramanian, S. P., Reed, M. W. R., Pharoah, P. D. P., Ponder, B. A. J., Meuth, M., Bhattacharyya, N. P., & Cox, A.
Venue
JNCI: Journal of the National Cancer Institute
Published
2004-12-15
Volume
96
Issue
24
Pages
1866-1869
ISSN
  • 0027-8874 (ISSN-L)
  • 1460-2105
OpenAlex
W2140338936
Cited by
196
References
1
FWCI
10.78
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Association of a Common Variant of the CASP8 Gene With Reduced Risk of Breast Cancer. https://app.cochat.ai/papers/10.1093/jnci/dji001
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MacPherson, G., Healey, C. S., Teare, M. D., Balasubramanian, S. P., Reed, M. W. R., Pharoah, P. D. P., Ponder, B. A. J., Meuth, M., Bhattacharyya, N. P., & Cox, A. (2004). Association of a Common Variant of the CASP8 Gene With Reduced Risk of Breast Cancer. JNCI: Journal of the National Cancer Institute. https://doi.org/10.1093/jnci/dji001

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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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