Abstract
A nonsense mutation, p.Q548X, in the BLM gene has recently been associated with an increased risk for breast cancer. In the present work, we investigated the prevalence of this Slavic founder mutation in 2,561 ovarian cancer cases from Russia, Belarus, Poland, Lithuania or Germany and compared its frequency with 6,205 ethnically matched healthy female controls. The p.Q548X allele was present in nine ovarian cancer patients of Slavic ancestry (0.5 %; including one case with concurrent BRCA1 mutation). The mutation was not significantly more frequent in cases than in controls (Mantel–Haenszel OR 1.14, 95 % CI 0.49; 2.67). Ovarian tumours in p.Q548X carriers were mainly of the serous subtype, and there was little evidence for an early age at diagnosis or pronounced family history of cancer. These findings indicate that the BLM p.Q548X mutation is not a strong risk factor for ovarian cancer.
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Acknowledgments
We thank the patients for their participation and the many clinicians at hospitals in Belarus, Germany, Poland and Russia for their support of this work. NB was supported by an intramural Hannelore-Munke stipend at Hannover Medical School. The Hannover laboratory was furthermore supported by the Rudolf Bartling Foundation. The St.-Petersburg study and the Ufa study are supported by the Russian Foundation for Basic Research (Grants 12-04-00928, 12-04-00535, 12-04-97026, and 14-04-97088). The Gdansk study was supported by the Polish National Science Centre (Grant 2011/02/A/NZ2/00017).
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Bogdanova, N., Togo, A.V., Ratajska, M. et al. Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. Familial Cancer 14, 145–149 (2015). https://doi.org/10.1007/s10689-014-9748-x
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DOI: https://doi.org/10.1007/s10689-014-9748-x