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
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Abstract
The most significant and well characterized genetic
risk factors for breast and/or ovarian cancer
are germline mutations in the BRCA1 and BRCA2
genes. The BRCA1 and BRCA2 gene mutations
strikingly increase breast cancer risk, suggesting
that polymorphisms in these genes are logical candidates
in seeking to identify low penetrance susceptibility
alleles. The aim of this study was to initiate
a screen for BRCA1/2 gene mutations in order
to identify the genetic variants in the Republic of
Macedonia, and to evaluate the association of several
single nucleotide polymorphisms (SNPs) in
these genes with breast cancer risk. In this study,
we included 100 patients with invasive breast cancer
from the Republic of Macedonia, classified according
to their family history and 100 controls. The
methodology included direct sequencing, single nucleotide
primer extension method and multiplex ligation
probe amplification (MLPA) analysis, all followed
by capillary electrophoresis (CE) on an ABI
PRISM™ 3130 Genetic Analyzer. We identified a total of seven carriers of mutations in the BRCA1/2
genes. None of the tested polymorphisms was associated
with sporadic breast cancer risk, however,
polymorphism rs8176267 in BRCA1 and N372H in
BRCA2 showed an association with breast cancer
risk in patients with at least one family member
with breast cancer.
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