Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe
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DOI：
10.1007/s10689-014-9748-x
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发表时间：
2015-03-01
期刊：
影响因子：
2.2
通讯作者：
Doerk, Thilo
中科院分区：
文献类型：
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作者：
Bogdanova, Natalia;Togo, Alexandr V.;Doerk, Thilo
BLM基因中的一种无义突变p.Q548X最近被认为与乳腺癌风险增加有关。在目前的工作中，我们调查了来自俄罗斯、白俄罗斯、波兰、立陶宛或德国的2561例卵巢癌患者中斯拉夫人创始人突变的患病率，并将其频率与6205名种族匹配的健康女性对照组进行了比较。在9例斯拉夫血统的卵巢癌患者中存在p.Q548X等位基因(0.5%，包括1例合并BRCA1突变)。MANTEL-Haenszel OR为1.14，95%CI为0.49；在P.Q548X携带者中，卵巢肿瘤主要是浆液性亚型，几乎没有证据表明确诊时年龄较早或有明显的癌症家族史。这些发现表明，BLMp.Q548X突变不是卵巢癌的强烈危险因素。
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.