Balkan Journal of Medical Genetics

GENETIC VARIATION OF THE BRCA1 AND BRCA2 GENES IN MACEDONIAN PATIENTS
Maleva I1, Madjunkova S1, Bozhinovski G1, Smickova E2, Kondov G3, Spiroski Z3, Arsovski A4, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dr. Dijana Plaseska-Karanfilska, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje 1000, Republic of Macedonia; Tel: +389(0)2 3235410; Fax: +389 (0)2 3115434; E-mail: dijana@manu.edu.mk
page: 81

MATERIALS AND METHODS

We included 100 patients with invasive breast cancer from the Republic of Macedonia in this study. The patients were referred to us from the Clinic for Oncology, Skopje and the Re-Medika General Hospital, Skopje, Republic of Macedonia. Patients were classified into three main groups, according to their family history: group 1) patients with two or more close relatives with breast cancer (n = 19); group 2) patients with only one affected relative with breast cancer (n = 31); and group 3) patients with no family history (sporadic cases) (n = 50). The control group consisted of healthy women from the general population (n = 100). The DNA was isolated from peripheral EDTA blood samples using standard proteinase K/SDS digestion followed by phenol chloroform extraction. All patients were screened for six mutations in the BRCA1 gene (185delAG, C61G, E368X, 4154delA, 4184del4 and 5382insC) and four in the BRCA2 gene (D2723G, 3034del4, 5950delCT and 9326insA) by a single nucleotide primer extension assay utilizing the ABI PRISM™ SNaPshot Multiplex Kit (Life Technologies, Carlsbad, CA, USA) following the manufacturer’s instructions (manuscript in preparation). Patients from the first group and patients younger than 40 years from the second group (n = 30) were screened for mutations in all coding sequences of the BRCA1 and BRCA2 genes by direct sequencing using the ABI PRISM™ Big Dye Terminator v.1.1 Kit (Life Technologies). Multiplex ligation probe amplification (MLPA) was used for the detection of large rearrangements in these genes using commercially available kits from MRC Holland, Amsterdam, The Netherlands. For the case-control association study of seven common variants in BRCA1 [rs1799949 (S694S), rs799917 (P871L), rs16941 (E1038G), rs16942 (E1138G), rs8176267, rs8176166 and rs3737559) and one in BRCA2 (rs144848 (H372N)] with breast cancer risk, we also used single nucleotide primer extension.

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