| Literature DB >> 28285342 |
I Gorodetska1,2, S Serga3, T Lahuta3, L Ostapchenko3, S Demydov3, N Khranovska4, O Skachkova4, M Inomistova4, O Kolesnik4, V Svintsitsky4, N Tsip4, A Peresunko5, N Kmit'5, O Manzhura6, Z Rossokha7, O Popova7, H Salomakhina7, S Kyriachenko8, I Kozeretska3.
Abstract
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.Entities:
Keywords: 300T > G; 5382insC; BRCA1; Mutation; Ovarian cancer; Ukraine
Mesh：
Substances：
Year: 2017 PMID： 28285342 DOI： 10.1007/s10689-017-9978-9
Source DB: PubMed Journal: Fam Cancer ISSN： 1389-9600 Impact factor: 2.375