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Familial Cancer
Published in: Familial Cancer 1/2015

Open Access 01-03-2015 | Original Article

Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women

Authors: Beata Smolarz, Marianna Makowska, Dariusz Samulak, Magdalena M. Michalska, Hanna Romanowicz

Published in: Familial Cancer | Issue 1/2015

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Abstract

Triple-negative breast cancer (TNBC) is characterised by worse clinical outcome and poor prognosis. The alterations in the oncogenes and tumor suppressor genes as well as microsatellite instability (MSI) have been associated with breast cancer development. It is knowledge that the most common mechanism inducing MSI in many cancer is genomic rearrangements found in the hMSH2 (human MutS homolog 2) gene. In this report we genotyped two polymorphisms of hMSH2 DNA repair gene in 70 TNBC patients and 70 age-matched cancer-free women using RFLP–PCR. The following polymorphisms were studied: an A/G transition at 127 positions producing an Asn/Ser substitution at codon 127 (the Asn127Ser polymorphism, rs17217772) and a G/A transition at 1032 position resulting in a Gly/Asp change at codon 322 (the Gly322Asp polymorphism, rs4987188). We found an association between the hMSH2 Asp/Asp and Gly/Asp genotypes and TNBC occurence. Variant Asp allele of hMSH2 decreased cancer risk [odds ratio (OR) 0.11; 95 % confidence interval (CI) 0.05–0.21]. The risk of TNBC in the carriers of the Gly322Gly–Asn127Ser combined genotype was increased (OR 3.71; 95 % CI 1.36–10.10). However the risk of TNBC was not alter by polymorphism Asn127Ser of the hMSH2 gene. The Gly322Asp polymorphism of the hMSH2 gene may be linked with TNBC occurrence in Polish women.
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Metadata
Title
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women
Authors
Beata Smolarz
Marianna Makowska
Dariusz Samulak
Magdalena M. Michalska
Hanna Romanowicz
Publication date
01-03-2015
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2015
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-014-9746-z

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