| Literature DB >> 25182961 |
Natalia Bogdanova1, Alexandr V Togo, Magdalena Ratajska, Wojtek Kluźniak, Zalina Takhirova, Theresa Tarp, Darya Prokofyeva, Marina Bermisheva, Grigoriy A Yanus, Tatiana V Gorodnova, Anna P Sokolenko, Alina Kuźniacka, Amira Podolak, Maciej Stukan, Dominika Wokołorczyk, Jacek Gronwald, Danuta Vasilevska, Vilius Rudaitis, Ingo B Runnebaum, Matthias Dürst, Tjoung-Won Park-Simon, Peter Hillemanns, Natalia Antonenkova, Elza Khusnutdinova, Janusz Limon, Jan Lubinski, Cezary Cybulski, Evgeny Imyanitov, Thilo Dörk.
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.Entities:
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Year: 2015 PMID： 25182961 DOI： 10.1007/s10689-014-9748-x
Source DB: PubMed Journal: Fam Cancer ISSN： 1389-9600 Impact factor: 2.375