The frequency of BRCA1 founder mutation c.5266dupC (5382insC) in breast cancer patients from Ukraine.

Iryna Kozeretska,Serhyi Demydov,Ludmila Ostapchenko,Svitlana Sklyar,Natalia Levkovich,Ielizaveta Gorodetska,Oleksander Boichenko,Tetiana Lahuta,Ivan Smolanka,Serhyi Polenkov,Valeriy Cheshuk,Nikolay Anikusko,Svitlana Serga

doi:10.1186/s13053-015-0040-3

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.

Highlights

Germ-line mutations in several genes, such as Breast cancer 1 (BRCA1) and BRCA2, are known to increase the risk of breast cancer
Mutations in BRCA1 and BRCA2 are associated with an increased risk of breast cancer, and is reported to be as high as 80 % [2], and associated with ovarian, prostate, pancreatic and male breast cancer [3,4,5]
Knowledge of the presence of a BRCA1 mutation is important for both prevention of cancer and personalized treatment

Summary

Introduction

Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. * Correspondence: liza.gorodetskaya@gmail.com 1Department General and Molecular Genetics, Educational and Scientific Centre “Institute of Biology”, Taras Shevchenko National University of Kyiv, Kyiv 01601, Ukraine Full list of author information is available at the end of the article A small number of studies of Ukrainian women breast cancer patients [14,15,16,17,18] have revealed the presence of a founder mutation in BRCA1, 5382insC.

Results

Conclusion