Clinical relevance of CHEK2 and NBN mutations in the macedonian population

Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, 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 28...

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Main Authors:	Kostovska, I Maleva, Jakimovska, M, Kubelka-Sabit, K, Karadjozov, M, Arsovski, A, Stojanovska, L, Plaseska-Karanfilska, D
Format:	Online
Language:	English
Published:	Macedonian Science of Sciences and Arts 2015
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768825/

id	pubmed-4768825
recordtype	oai_dc
spelling	pubmed-47688252016-02-29 Clinical relevance of CHEK2 and NBN mutations in the macedonian population Kostovska, I Maleva Jakimovska, M Kubelka-Sabit, K Karadjozov, M Arsovski, A Stojanovska, L Plaseska-Karanfilska, D Original Article Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, 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. Macedonian Science of Sciences and Arts 2015-12-30 /pmc/articles/PMC4768825/ /pubmed/26929905 http://dx.doi.org/10.1515/bjmg-2015-0005 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Kostovska, I Maleva Jakimovska, M Kubelka-Sabit, K Karadjozov, M Arsovski, A Stojanovska, L Plaseska-Karanfilska, D
spellingShingle	Kostovska, I Maleva Jakimovska, M Kubelka-Sabit, K Karadjozov, M Arsovski, A Stojanovska, L Plaseska-Karanfilska, D Clinical relevance of CHEK2 and NBN mutations in the macedonian population
author_facet	Kostovska, I Maleva Jakimovska, M Kubelka-Sabit, K Karadjozov, M Arsovski, A Stojanovska, L Plaseska-Karanfilska, D
author_sort	Kostovska, I Maleva
title	Clinical relevance of CHEK2 and NBN mutations in the macedonian population
title_short	Clinical relevance of CHEK2 and NBN mutations in the macedonian population
title_full	Clinical relevance of CHEK2 and NBN mutations in the macedonian population
title_fullStr	Clinical relevance of CHEK2 and NBN mutations in the macedonian population
title_full_unstemmed	Clinical relevance of CHEK2 and NBN mutations in the macedonian population
title_sort	clinical relevance of chek2 and nbn mutations in the macedonian population
description	Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, 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.
publisher	Macedonian Science of Sciences and Arts
publishDate	2015
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768825/
_version_	1613543853075202048

Clinical relevance of CHEK2 and NBN mutations in the macedonian population

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