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Breast Cancer Research
Published in: Breast Cancer Research 4/2005

Open Access 01-08-2005 | Research article

TP53-binding protein variants and breast cancer risk: a case-control study

Authors: Bernd Frank, Kari Hemminki, Justo Lorenzo Bermejo, Rüdiger Klaes, Peter Bugert, Barbara Wappenschmidt, Rita K Schmutzler, Barbara Burwinkel

Published in: Breast Cancer Research | Issue 4/2005

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Abstract

Introduction

The TP53-binding protein (53BP1) has been shown to influence TP53-mediated transcriptional activation, thus playing a pivotal role in DNA damage signalling. Genetic aberrations in TP53 and in ATM and CHEK2 predispose to cancer. We have therefore examined the effects of 53BP1 single nucleotide polymorphisms (D353E, G412S, and K1136Q) and the novel 53BP1 6bp deletion (1347_1352delTATCCC) on breast cancer risk.

Methods

Allelic discrimination was performed to investigate the frequencies of 53BP1 D353E, G412S, and K1136Q and of 1347_1352delTATCCC in 353 patients with breast cancer and 960 control individuals.

Results

No significant association of 53BP1 D353E, G412S, or K1136Q with breast cancer risk was detected. 53BP1 1347_1352delTATCCC, leading to the loss of an isoleucine and a proline residue, showed a nonsignificant inverse association with breast cancer risk (odds ratio = 0.61, 95% confidence interval = 0.22 to 1.68, P = 0.34).

Conclusion

The lack of association casts doubt on the putative effects of D353E, G412S, and K1136Q on breast cancer risk. Investigating a larger study cohort might elucidate the influence of the 6bp deletion 1347_1352delTATCCC. Studying the functional effect and the impact of this variant on the risk of other cancers may be revealing.
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Metadata
Title
TP53-binding protein variants and breast cancer risk: a case-control study
Authors
Bernd Frank
Kari Hemminki
Justo Lorenzo Bermejo
Rüdiger Klaes
Peter Bugert
Barbara Wappenschmidt
Rita K Schmutzler
Barbara Burwinkel
Publication date
01-08-2005
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 4/2005
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1038

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