title: Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.
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.
authors.affiliation: Department of Obstetrics and Gynaecology, Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
authors.forename: Natalia
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authors.lastname: Bogdanova
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authors.lastname: Ratajska
authors.forename: Wojtek
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authors.lastname: Sokolenko
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authors.lastname: Kuźniacka
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authors.lastname: Podolak
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authors.lastname: Wokołorczyk
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authors.lastname: Gronwald
authors.forename: Danuta
authors.initials: D
authors.lastname: Vasilevska
authors.forename: Vilius
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authors.lastname: Rudaitis
authors.forename: Ingo B
authors.initials: IB
authors.lastname: Runnebaum
authors.forename: Matthias
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authors.lastname: Dürst
authors.forename: Tjoung-Won
authors.initials: TW
authors.lastname: Park-Simon
authors.forename: Peter
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authors.lastname: Hillemanns
authors.forename: Natalia
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authors.lastname: Antonenkova
authors.forename: Elza
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authors.lastname: Khusnutdinova
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Evgeny
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authors.lastname: Imyanitov
authors.forename: Thilo
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authors.lastname: Dörk
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D018389:Codon, Nonsense; D005060:Europe; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D053484:RecQ Helicases / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C097151:Bloom syndrome protein; D053484:RecQ Helicases