Familial cancer · 2015
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Bogdanova Natalia, Togo Alexandr V, Ratajska Magdalena, Kluźniak Wojtek, Takhirova Zalina, Tarp Theresa, Prokofyeva Darya, Bermisheva Marina, Yanus Grigoriy A, Gorodnova Tatiana V, Sokolenko Anna P, Kuźniacka Alina, Podolak Amira, Stukan Maciej, Wokołorczyk Dominika, Gronwald Jacek, Vasilevska Danuta, Rudaitis Vilius, Runnebaum Ingo B, Dürst Matthias, Park-Simon Tjoung-Won, Hillemanns Peter, Antonenkova Natalia, Khusnutdinova Elza, Limon Janusz, Lubinski Jan, Cybulski Cezary, Imyanitov Evgeny, Dörk Thilo
Аннотация
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.