Department of Biology and Genetics, Medical University of Gdansk, Debinki 1, Gdansk, Poland.
J Appl Genet. 2011 Aug;52(3):325-30. doi: 10.1007/s13353-011-0040-6. Epub 2011 Apr 19.
The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.
我们研究的目的是确定波兰普通人群和一系列乳腺癌患者中四种最常见 BRCA1 突变的频率和分布。对 BRCA1 基因的 5382insC(c.5266dupC)、300T >G(p.181T >G)、185delAG(c.68_69delAG)和 3819del5(c.3700_3704del5)突变在出生时分别在波兰七个省采集的 16849、13462、12485 和 3923 个匿名样本组成的一组人群进行了分析。患者组由 1845 例连续女性乳腺癌病例组成。在普通人群中，最常见的 BRCA1 突变是 5382insC，在 16849 个样本中有 29 个（0.17%）发现。在 13462 个样本中有 11 个（0.08%）发现了 300T >G 突变，在 3923 个样本中有 4 个（0.1%）发现了 3819del5 突变。联合波兰创始人 5382insC 和 300T >G 突变的人群患病率为 0.25%（400 分之 1）。在连续乳腺癌病例中，5382insC 和 300T >G 携带者的频率分别为 1.9%（35/1845）和 1.2%（18/1486）。将这些数据与人群频率进行比较，我们计算出 5382insC 突变的乳腺癌相对风险为 17，300T >G 突变的乳腺癌相对风险为 26。我们基于大型人群研究的结果表明，波兰普通人群中存在高频率的创始人 5382insC 和 300T >G BRCA1 突变。携带其中一种突变与乳腺癌的极高相对风险相关。
