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. 2017 Oct;16(4):471-476.
doi: 10.1007/s10689-017-9978-9.

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

I Gorodetska  1   2 , S Serga  3 , T Lahuta  3 , L Ostapchenko  3 , S Demydov  3 , N Khranovska  4 , O Skachkova  4 , M Inomistova  4 , O Kolesnik  4 , V Svintsitsky  4 , N Tsip  4 , A Peresunko  5 , N Kmit'  5 , O Manzhura  6 , Z Rossokha  7 , O Popova  7 , H Salomakhina  7 , S Kyriachenko  8 , I Kozeretska  3
Affiliations

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

I Gorodetska et al. Fam Cancer. 2017 Oct.

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.

Keywords: 300T > G; 5382insC; BRCA1; Mutation; Ovarian cancer; Ukraine.

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