Gorodetska I, Serga S, Lahuta T, Ostapchenko L, Demydov S, Khranovska N, Skachkova O, Inomistova M, Kolesnik O, Svintsitsky V, Tsip N, Peresunko A, Kmit' N, Manzhura O, Rossokha Z, Popova O, Salomakhina H, Kyriachenko S, Kozeretska I
Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
Department General and Medical Genetics, Educational and Scientific Centre "Institute of Biology and Medicine", Taras Shevchenko National University of Kyiv, 64/13, Volodymyrska Street, Kyiv, 01601, Ukraine.
Fam Cancer. 2017 Oct;16(4):471-476. doi: 10.1007/s10689-017-9978-9.
Ovarian cancer is the seventh most common cancer in women worldwide and the leading cause of gynecological malignant diseases-related deaths in women. The most significant risk factor for ovarian cancer is an inherited genetic mutation in one of two genes: breast cancer gene 1 (BRCA1) or breast cancer gene 2 (BRCA2). The germline mutation c.5266dupC (also known as 5382insC or 5385insC) is the most common mutation among Slavic patients with breast and/or ovarian cancer. Missense mutation c.181T > G (also known as 300T > G or p.C61G) is regarded as the founder change in many Central European countries. We screened 306 ovarian cancer patients diagnosed at different ages by mutagenically separated polymerase chain reaction (PCR) and real-time PCR. A total of 25 BRCA1 mutations were detected (18 cases of 5382insC and 7 cases of 300 T > G). The frequency of the BRCA1 5382insC mutation is similar in breast and ovarian cancer patients from Ukraine, but the frequency of 300T > G was estimated in Ukraine at first time.
卵巢癌是全球女性中第七大常见癌症，也是女性妇科恶性疾病相关死亡的主要原因。卵巢癌最显著的风险因素是两个基因之一的遗传性基因突变：乳腺癌基因1（BRCA1）或乳腺癌基因2（BRCA2）。种系突变c.5266dupC（也称为5382insC或5385insC）是斯拉夫乳腺癌和/或卵巢癌患者中最常见的突变。错义突变c.181T > G（也称为300T > G或p.C61G）在许多中欧国家被视为始祖突变。我们通过诱变分离聚合酶链反应（PCR）和实时PCR对306例不同年龄诊断的卵巢癌患者进行了筛查。共检测到25例BRCA1突变（18例5382insC和7例300T > G）。乌克兰乳腺癌和卵巢癌患者中BRCA1 5382insC突变的频率相似，但300T > G的频率在乌克兰是首次估计。
