title: The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine.
abstract: Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic background due to founder effects and thereby contribute to differences in breast cancer rates in different populations. The BRCA1 mutation c.5266dupC (also known as 5382insC or 5385insC) was detected in a sample of 193 breast cancer patients in Ukraine by multiplex mutagenically separated PCR using published specific primers. Nine BRCA1 mutations 5382insC were detected (4.7 %). The difference in age of diagnosis (35 years in 5382insC carriers versus 45 years in non-carriers) we observed is consistent with other reports indicating that the 5382insC mutation is a factor of genetic predisposition to breast cancer, which is consistent with reports from other countries.
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Ielizaveta
authors.initials: I
authors.lastname: Gorodetska
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Svitlana
authors.initials: S
authors.lastname: Serga
authors.affiliation: Shupik National Postgraduate Education Medical Academy, Kyiv, Ukraine.
authors.forename: Natalia
authors.initials: N
authors.lastname: Levkovich
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Tetiana
authors.initials: T
authors.lastname: Lahuta
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Ostapchenko
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Serhyi
authors.initials: S
authors.lastname: Demydov
authors.affiliation: Kyiv Municipal Clinical Oncological Center, Kyiv, Ukraine.
authors.forename: Nikolay
authors.initials: N
authors.lastname: Anikusko
authors.affiliation: Kyiv Municipal Clinical Oncological Center, Kyiv, Ukraine.
authors.forename: Valeriy
authors.initials: V
authors.lastname: Cheshuk
authors.affiliation: Ukrainian National Cancer Institute, Kyiv, Ukraine.
authors.forename: Ivan
authors.initials: I
authors.lastname: Smolanka
authors.affiliation: Ukrainian National Cancer Institute, Kyiv, Ukraine.
authors.forename: Svitlana
authors.initials: S
authors.lastname: Sklyar
authors.affiliation: Chernihiv Regional Oncology Center, Chernihiv, Ukraine.
authors.forename: Serhyi
authors.initials: S
authors.lastname: Polenkov
authors.affiliation: Zhytomyr Regional Oncology Center, Zhytomyr, Ukraine.
authors.forename: Oleksander
authors.initials: O
authors.lastname: Boichenko
authors.affiliation: Department General and Molecular Genetics, Educational and Scientific Centre "Institute of Biology", Taras Shevchenko National University of Kyiv, Kyiv, 01601 Ukraine.
authors.forename: Iryna
authors.initials: I
authors.lastname: Kozeretska
keywords: 5382insC; BRCA1; Breast cancer; Mutation; Ukrainian population