Savanevich Alena, Oszurek Oleg, Lubiński Jan, Cybulski Cezary, Dębniak Tadeusz, Narod Steven A, Gronwald Jacek
Department of Obsetetrics and Gynecology, Grodno State Medical University, Grodno, Belarus.
Fam Cancer. 2014 Sep;13(3):445-7. doi: 10.1007/s10689-014-9721-8.
In Belarus and other Slavic countries, founder mutations in the BRCA1 gene are responsible for a significant proportion of breast cancer cases, but the data on contribution of these mutations to ovarian cancers are limited. To estimate the proportion of ovarian cancers in Belarus, which are dependent on BRCA1 Slavic founder mutations, we sought the presence of three most frequent mutations (BRCA1: 5382insC, C61G and, 4153delA) in 158 consecutive unselected cases of ovarian cancer. One of the three founder mutations was present in 25 of 158 unselected cases of ovarian cancer (15.8 %). We recommend that all cases of ovarian cancer in Belarus be offered genetic testing for these founder mutations. Furthermore, genetic testing of the Belarusian population will provide the opportunity to prevent a significant proportion of ovarian cancer.
在白俄罗斯和其他斯拉夫国家，BRCA1基因的始祖突变导致了相当比例的乳腺癌病例，但这些突变对卵巢癌影响的数据有限。为了估计白俄罗斯依赖BRCA1斯拉夫始祖突变的卵巢癌比例，我们在158例未经挑选的卵巢癌连续病例中寻找三种最常见的突变（BRCA1：5382insC、C61G和4153delA）。在158例未经挑选的卵巢癌病例中，有25例（15.8%）存在这三种始祖突变之一。我们建议对白俄罗斯所有卵巢癌病例进行这些始祖突变的基因检测。此外，对白俄罗斯人群进行基因检测将提供预防相当比例卵巢癌的机会。
