title: Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.
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.
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine. liza.gorodetskaya@gmail.com.|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. liza.gorodetskaya@gmail.com.
authors.forename: I
authors.initials: I
authors.lastname: Gorodetska
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
authors.forename: S
authors.initials: S
authors.lastname: Serga
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
authors.forename: T
authors.initials: T
authors.lastname: Lahuta
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
authors.forename: L
authors.initials: L
authors.lastname: Ostapchenko
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
authors.forename: S
authors.initials: S
authors.lastname: Demydov
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: N
authors.initials: N
authors.lastname: Khranovska
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: O
authors.initials: O
authors.lastname: Skachkova
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: M
authors.initials: M
authors.lastname: Inomistova
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: O
authors.initials: O
authors.lastname: Kolesnik
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: V
authors.initials: V
authors.lastname: Svintsitsky
authors.affiliation: National Cancer Institute, Kyiv, Ukraine.
authors.forename: N
authors.initials: N
authors.lastname: Tsip
authors.affiliation: Bukovinian State Medical University, Chernivtsi, Ukraine.
authors.forename: A
authors.initials: A
authors.lastname: Peresunko
authors.affiliation: Bukovinian State Medical University, Chernivtsi, Ukraine.
authors.forename: N
authors.initials: N
authors.lastname: Kmit'
authors.affiliation: Kyiv Municipal Clinical Oncological Center, Kyiv, Ukraine.
authors.forename: O
authors.initials: O
authors.lastname: Manzhura
authors.affiliation: State Institutions "Reference-Centre for Molecular Diagnostics of Public Health Ministry of Ukraine", Kyiv, Ukraine.
authors.forename: Z
authors.initials: Z
authors.lastname: Rossokha
authors.affiliation: State Institutions "Reference-Centre for Molecular Diagnostics of Public Health Ministry of Ukraine", Kyiv, Ukraine.
authors.forename: O
authors.initials: O
authors.lastname: Popova
authors.affiliation: State Institutions "Reference-Centre for Molecular Diagnostics of Public Health Ministry of Ukraine", Kyiv, Ukraine.
authors.forename: H
authors.initials: H
authors.lastname: Salomakhina
authors.affiliation: Shupik National Medical Academy of Postgraduate Education, Kyiv, Ukraine.
authors.forename: S
authors.initials: S
authors.lastname: Kyriachenko
authors.affiliation: Taras Shevchenko National University of Kyiv, Kyiv, Ukraine.
authors.forename: I
authors.initials: I
authors.lastname: Kozeretska
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000235:genetics*; D015995:Prevalence; D014455:Ukraine / Q000453:epidemiology
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: 300T > G; 5382insC; BRCA1; Mutation; Ovarian cancer; Ukraine