Background Mutations in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Central-Eastern European counties, the founder mutations in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been precisely established in Belarus. Methods Two hundred fourteen consecutive unselected cases of ovarian cancer patients from the region of West Belarus were examined. We studied 13 founder mutations in BRCA1 (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68_69delAG, c.3700_3704delGTAAA, c.1687C > T, c.3756_3759delGTCT) and in BRCA2 (c.658_659delGT, c.7913_7917delTTCCT, c.3847_3848delGT, c.5946delT) characteristic for Central European population. Results A BRCA1 or BRCA2 founder mutations were detected in 54 of the 214 (25.2%) ovarian cancer cases. The BRCA1 c.5266dupC mutation was detected in 28 patients, followed by c.4035delA mutation observed in 18 patients. BRCA1 c.3756_3759delGTCT, c.68_69delAG, and c.1687C > T were found in 3, 2, and 1 women, respectively. BRCA2 c.658_659delGT mutation was detected in 2 ovarian cancer patients. The median age of diagnosis of the 54 hereditary ovarian cancers was 57.5 years. Conclusions The frequency of 13 causative BRCA1 and BRCA2 founder mutations in West Belarus was higher than in other Slavic countries. Testing of BRCA1 (c.5266dupC, c.4035delA, c.3756_3759delGTCT, c.68_69delAG, c.1687C > T as well as c.181 T > G) and BRCA2 (c.658_659delGT) mutations should be considered an inexpensive and sensitive test panel for this population.

中文翻译：

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白俄罗斯卵巢癌患者的 BRCA1 和 BRCA2 突变：更新

背景 BRCA1 和 BRCA2 的突变是乳腺癌和卵巢癌的公认危险因素。在中东欧国家，BRCA1 中的创始突变导致了很大比例的卵巢癌病例，然而，各种突变频率的地区差异可能存在。白俄罗斯尚未准确确定卵巢癌患者之间 BRCA1/2 突变的谱和频率。方法 对来自西白俄罗斯地区的 214 例连续未选择的卵巢癌患者进行了检查。我们研究了 BRCA1 中的 13 个创始人突变（c.5266dupC、c.4035delA、c.5251C > T、c.181 T > G、c.676delT、c.68_69delAG、c.3700_3704delGTAAA、c.1687C > T、c.3757C > T、c.3757C。 ) 和 BRCA2 (c.658_659delGT, c.7913_7917delTTCCT, c.3847_3848delGT, c. 5946delT) 中欧人口的特征。结果 在 214 例 (25.2%) 卵巢癌病例中的 54 例中检测到 BRCA1 或 BRCA2 创始人突变。在 28 名患者中检测到 BRCA1 c.5266dupC 突变，随后在 18 名患者中检测到 c.4035delA 突变。分别在 3、2 和 1 名女性中发现 BRCA1 c.3756_3759delGTCT、c.68_69delAG 和 c.1687C > T。在 2 名卵巢癌患者中检测到 BRCA2 c.658_659delGT 突变。54 例遗传性卵巢癌的中位诊断年龄为 57.5 岁。结论 西白俄罗斯 13 个致病 BRCA1 和 BRCA2 创始人突变的频率高于其他斯拉夫国家。测试 BRCA1（c.5266dupC、c.4035delA、c.3756_3759delGTCT、c.68_69delAG、c.1687C > T 以及 c.181 T > G）和 BRCA2（c.