乌克兰乳腺癌患者中BRCA1始祖突变c.5266dupC（5382insC）的频率。
The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine.
作者信息
Gorodetska Ielizaveta, Serga Svitlana, Levkovich Natalia, Lahuta Tetiana, Ostapchenko Ludmila, Demydov Serhyi, Anikusko Nikolay, Cheshuk Valeriy, Smolanka Ivan, Sklyar Svitlana, Polenkov Serhyi, Boichenko Oleksander, Kozeretska Iryna
机构信息
Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
Shupik National Postgraduate Education Medical Academy, Kyiv, Ukraine.
出版信息
Hered Cancer Clin Pract. 2015 Oct 13;13:19. doi: 10.1186/s13053-015-0040-3. eCollection 2015.
Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic background due to founder effects and thereby contribute to differences in breast cancer rates in different populations. The BRCA1 mutation c.5266dupC (also known as 5382insC or 5385insC) was detected in a sample of 193 breast cancer patients in Ukraine by multiplex mutagenically separated PCR using published specific primers. Nine BRCA1 mutations 5382insC were detected (4.7 %). The difference in age of diagnosis (35 years in 5382insC carriers versus 45 years in non-carriers) we observed is consistent with other reports indicating that the 5382insC mutation is a factor of genetic predisposition to breast cancer, which is consistent with reports from other countries.
已知BRCA1和BRCA2等多个基因的种系突变会增加患乳腺癌的风险。由于奠基者效应，这些可遗传突变在不同种族背景的人群中分布不均，从而导致不同人群乳腺癌发病率存在差异。通过使用已发表的特异性引物进行多重诱变分离PCR，在乌克兰的193例乳腺癌患者样本中检测到BRCA1突变c.5266dupC（也称为5382insC或5385insC）。检测到9例BRCA1突变5382insC（4.7%）。我们观察到的诊断年龄差异（5382insC携带者为35岁，非携带者为45岁）与其他报告一致，表明5382insC突变是乳腺癌遗传易感性的一个因素，这与其他国家的报告相符。
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