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Cancer Cell International
Published in: Cancer Cell International 1/2018

Open Access 01-12-2018 | Primary Research

Unique CD44 intronic SNP is associated with tumor grade in breast cancer: a case control study and in silico analysis

Authors: Rezvan Esmaeili, Nasrin Abdoli, Fatemeh Yadegari, Mohamadreza Neishaboury, Leila Farahmand, Ahmad Kaviani, Keivan Majidzadeh-A

Published in: Cancer Cell International | Issue 1/2018

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Abstract

Background

CD44 encoded by a single gene is a cell surface transmembrane glycoprotein. Exon 2 is one of the important exons to bind CD44 protein to hyaluronan. Experimental evidences show that hyaluronan–CD44 interaction intensifies the proliferation, migration, and invasion of breast cancer cells. Therefore, the current study aimed at investigating the association between specific polymorphisms in exon 2 and its flanking region of CD44 with predisposition to breast cancer.

Methods

In the current study, 175 Iranian female patients with breast cancer and 175 age-matched healthy controls were recruited in biobank, Breast Cancer Research Center, Tehran, Iran. Single nucleotide polymorphisms of CD44 exon 2 and its flanking were analyzed via polymerase chain reaction and gene sequencing techniques. Association between the observed variation with breast cancer risk and clinico-pathological characteristics were studied. Subsequently, bioinformatics analysis was conducted to predict potential exonic splicing enhancer (ESE) motifs changed as the result of a mutation.

Results

A unique polymorphism of the gene encoding CD44 was identified at position 14 nucleotide upstream of exon 2 (A37692→G) by the sequencing method. The A > G polymorphism exhibited a significant association with higher-grades of breast cancer, although no significant relation was found between this polymorphism and breast cancer risk. Finally, computational analysis revealed that the intronic mutation generated a new consensus-binding motif for the splicing factor, SC35, within intron 1.

Conclusions

The current study results indicated that A > G polymorphism was associated with breast cancer development; in addition, in silico analysis with ESE finder prediction software showed that the change created a new SC35 binding site.
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Metadata
Title
Unique CD44 intronic SNP is associated with tumor grade in breast cancer: a case control study and in silico analysis
Authors
Rezvan Esmaeili
Nasrin Abdoli
Fatemeh Yadegari
Mohamadreza Neishaboury
Leila Farahmand
Ahmad Kaviani
Keivan Majidzadeh-A
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Cancer Cell International / Issue 1/2018
Electronic ISSN: 1475-2867
DOI
https://doi.org/10.1186/s12935-018-0522-2

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