Journal Article

Association of death receptor 4 haplotype 626C–683C with an increased breast cancer risk

Bernd Frank, Kari Hemminki, Kalai S. Shanmugam, Alfons Meindl, Rüdiger Klaes, Rita K. Schmutzler, Barbara Wappenschmidt, Michael Untch, Peter Bugert, Claus R. Bartram and Barbara Burwinkel

in Carcinogenesis

Volume 26, issue 11, pages 1975-1977
Published in print November 2005 | ISSN: 0143-3334
Published online June 2005 | e-ISSN: 1460-2180 | DOI:
Association of death receptor 4 haplotype 626C–683C with an increased breast cancer risk

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  • Clinical Cytogenetics and Molecular Genetics


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Dysregulation of apoptosis plays a crucial role in carcinogenesis. Tumour necrosis factor-related apoptosis-inducing ligand stimulates the extrinsic apoptotic pathway by binding to death receptor 4 (DR4). Thus, genetic alterations within the candidate tumour suppressor gene DR4 would be expected to provoke a deficient apoptotic signalling thereby facilitating the development of cancer. The DR4 variants Thr209Arg and Glu228Ala were genotyped in a series of 521 breast cancer cases and 1100 control subjects from Germany, determining their impact on breast cancer risk. Neither Thr209Arg (626C>G) nor Glu228Ala (683A>C) alone were significantly associated with breast cancer risk [odds ratio (OR) = 0.84, 95% confidence interval (CI) = 0.65–1.08, P = 0.18 and OR = 0.89, 95% CI = 0.72–1.12, P = 0.30]. However, haplotype analysis revealed a 3.5-fold risk for carriers of the 626C–683C haplotype (OR = 3.52, 95% CI = 1.45–8.52, P = 0.003).

Keywords: DR4, death receptor 4; SNP, single nucleotide polymorphism; TNF, tumour necrosis factor; TRAIL, TNF-related apoptosis-inducing ligand.

Journal Article.  2022 words. 

Subjects: Clinical Cytogenetics and Molecular Genetics

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