Institute of Molecular Biology and Biophysics, Siberian Branch of Russian Academy of Medical Sciences, Timakova Str. 2, Novosibirsk 630117, Russia.
Breast. 2013 Aug;22(4):532-6. doi: 10.1016/j.breast.2012.12.007. Epub 2013 Feb 1.
The frequencies of four mutations in the BRCA1 gene (185delAG, T300G, 4153delA, and 5382insC) were estimated in the Russian population. The mutations were analyzed in 7920 DNA samples obtained from randomly selected Novosibirsk citizens and 570 samples from breast cancer patients at Siberian hospitals. The mutations were detected by allele-specific real-time PCR. The mutation analysis was performed with pooled DNA samples to reduce the cost of the study. The 5382insC mutation was found in 20 of 7920 (0.25%) population DNA samples and in 14 of 570 (2.46%) breast cancer samples; the T300G mutation was detected in 4 population samples (0.05%) and in 2 breast cancer samples (0.35%); the 185delAG or 4153delA mutations were not identified in any of the 7920 samples and were detected in 1 (0.18%) breast cancer case each.
BRCA1 基因中的四个突变（185delAG、T300G、4153delA 和 5382insC）的频率在俄罗斯人群中进行了估计。在来自新西伯利亚市的随机选择的 7920 个 DNA 样本和来自西伯利亚医院的 570 个乳腺癌患者样本中分析了这些突变。突变通过等位基因特异性实时 PCR 进行检测。使用混合 DNA 样本进行突变分析，以降低研究成本。在 7920 个群体 DNA 样本中的 20 个（0.25%）和 570 个乳腺癌样本中的 14 个（2.46%）中发现了 5382insC 突变；在 4 个群体样本（0.05%）和 2 个乳腺癌样本（0.35%）中检测到 T300G 突变；在 7920 个样本中未发现 185delAG 或 4153delA 突变，每个乳腺癌病例各检测到 1 个（0.18%）。
