CLINICAL RELEVANCE OF CHEK2 AND NBN
MUTATIONS IN THE MACEDONIAN POPULATION
Maleva Kostovska I, Jakimovska M, Kubelka-Sabit K, Karadjozov M,
Arsovski A, Stojanovska L, Plaseska-Karanfilska D1,
*Corresponding Author: Dijana Plaseska-Karanfilska, M.D., Ph.D., Research Centre for Genetic Engineering
and Biotechnology “Geogi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Tel: +389-2-3235-410. Fax: +389-2-3155-434. E-mail: dijana@manu.edu.mk
page: 47
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Abstract
Clinical importance of the most common CHEK2
(IVS2+1 G>A, 1100delŃ, I157T and del5395) and
NBN (R215W and 657del5) gene mutations for breast
cancer development in Macedonian breast cancer patients
is unknown. We performed a case-control study
including 300 Macedonian breast cancer patients and
283 Macedonian healthy controls. Genotyping was
done using a fast and highly accurate single-nucleotide
primer extension method for the detection of
five mutations in a single reaction. The detection of
the del5395 was performed using an allele-specific
duplex polymerase chain reaction (PCR) assay. We
have found that mutations were more frequent in
breast cancer patients (n = 13, 4.3%) than in controls
(n = 5, 1.8%), although without statistical significance.
Twelve patients were heterozygous for one of
the analyzed mutations, while one patient had two
mutations (NBN R215W and CHEK2 I157T). The
most frequent variant was I157T, found in 10 patients
and four controls (p = 0.176) and was found to be
associated with familial breast cancer (p = 0.041).
CHEK2 1100delC and NBN 657del5 were each found
in one patient and not in the control group. CHEK2
IVS2+1G>A and del5395 were not found in our cohort.
Frequencies of the studied mutations are low
and they are not likely to represent alleles of clinical
importance in the Macedonian population.
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