Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.

doi:10.1007/s10689-014-9748-x

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Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.

Familial cancer - 1 Mar 2015

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

Abstract excerpt

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...

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PMID: 25182961
DOI: 10.1007/s10689-014-9748-x

Genes

BLM
BRCA1

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