Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine

• DOI: 10.1007/s10689-017-9978-9
• Publication Date: 2017-03-11T08:40:37Z
• Authors: I. Gorodetska; S. Serga; T. Lahuta; L. Ostapchenko; S. Demydov; N. Khranovska; O. Skachkova; M. Inomistova; O. Kolesnik; V. Svintsitsky; N. Tsip; A. Peresunko; N. Kmit’; O. Manzhura; Z. Rossokha; O. Popova; H. Salomakhina; S. Kyriachenko; I. Kozeretska
• Keywords: Adult; Ovarian Neoplasms; Heterozygote; BRCA1 Protein; Mutation, Missense; Middle Aged; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Mutation Rate; Mutation; Prevalence; Humans; Female; Ukraine; Aged

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.