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NBS1 variant I171V and breast cancer risk

  • Epidemiology
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Abstract

The NBS1/p95 protein has a pivotal role in the sensing and repair of chromosome breaks. A missense mutation in the NBS1 gene, I171V, has recently been associated with a ninefold increased risk of breast cancer in Polish patients. Positive associations have also been reported for leukaemia and larynx cancer suggesting that I171V could be a more general susceptibility factor for malignancies. We investigated the prevalence of this mutation in two large hospital-based case-control series from Germany and from the Republic of Belarus. The I171V substitution was detected in 20/1,636 Byelorussian breast cancer patients and in 18/1,014 Byelorussian controls (OR: 0.68; 95%CI: 0.36–1.30, P = 0.3). The I171V substitution was furthermore detected in 10/1,048 German breast cancer patients and in 7/1,017 German controls (OR: 1.39; 95%CI: 0.53–3.67, P = 0.7). There were no significant differences between I171V carriers and non-carriers among the cases with regard to age at diagnosis, family history or bilateral occurrence of disease. A meta-analysis of all hitherto available studies did not reveal a difference in the prevalence of I171V between breast cancer cases and controls (OR: 1.05; 95%CI: 0.64–1.74, P = 0.9). We conclude that the I171V substitution is unlikely to constitute a strong risk factor for breast cancer in our study populations.

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Acknowledgements

We cordially thank the patients and the clinicians at the oncological centers for their participation. We furthermore thank E.A. Gacucova for her excellent assistance and help in the collection and preparation of Byelorussian patient samples. N.B. has been generously supported by the Friends of Hannover Medical School.

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Correspondence to Thilo Dörk.

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Bogdanova, N., Schürmann, P., Waltes, R. et al. NBS1 variant I171V and breast cancer risk. Breast Cancer Res Treat 112, 75–79 (2008). https://doi.org/10.1007/s10549-007-9820-4

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  • DOI: https://doi.org/10.1007/s10549-007-9820-4

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