CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.

<h4>Background</h4>Cell surface biomarker CD44 plays an important role in breast cancer cell growth, differentiation, invasion, angiogenesis and tumour metastasis. Therefore, we aimed to investigate the role of CD44 gene polymorphisms in breast cancer risk and prognosis in North Indian p...

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Autores principales:	Sonam Tulsyan, Gaurav Agarwal, Punita Lal, Sushma Agrawal, Rama Devi Mittal, Balraj Mittal
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/96a31733030b4fc9b8edb666f16157eb
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spelling	oai:doaj.org-article:96a31733030b4fc9b8edb666f16157eb2021-11-18T09:01:12ZCD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.1932-620310.1371/journal.pone.0071073https://doaj.org/article/96a31733030b4fc9b8edb666f16157eb2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23940692/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Cell surface biomarker CD44 plays an important role in breast cancer cell growth, differentiation, invasion, angiogenesis and tumour metastasis. Therefore, we aimed to investigate the role of CD44 gene polymorphisms in breast cancer risk and prognosis in North Indian population.<h4>Materials & methods</h4>A total of 258 breast cancer patients and 241 healthy controls were included in the case-control study for risk prediction. According to RECIST, 114 patients who received neo-adjuvant chemotherapy were recruited for the evaluation of breast cancer prognosis. We examined the association of tagging SNP (rs353639) of Hapmap Gujrati Indians in Houston (GIH population) in CD44 gene along with a significant reported SNP (rs13347) in Chinese population by genotyping using Taqman allelic discrimination assays. Statistical analysis was done using SPSS software, version 17. In-silico analysis for prediction of functional effects was done using F-SNP and FAST-SNP.<h4>Results</h4>No significant association of both the genetic variants of the CD44 gene polymorphisms was found with breast cancer risk. On performing univariate analysis with clinicopathological characteristics and treatment response, we found significant association of genotype (CT+TT) of rs13347 polymorphism with earlier age of onset (P = 0.029, OR = 0.037). However, significance was lost in multivariate analysis. For rs353639 polymorphism, significant association was seen with clinical tumour size, both at the genotypic (AC+CC) (P = 0.039, OR = 3.02) as well as the allelic (C) (P = 0.042, OR = 2.87) levels. On performing multivariate analysis, increased significance of variant genotype (P = 0.017, OR = 4.29) and allele (P = 0.025, OR = 3.34) of rs353639 was found with clinical tumour size. In-silico analysis using F-SNP, showed altered transcriptional regulation for rs353639 polymorphism.<h4>Conclusions</h4>These findings suggest that CD44 rs353639 genetic variants may have significant effect in breast cancer prognosis. However, both the polymorphisms- rs13347 and rs353639 had no effect on breast cancer susceptibility.Sonam TulsyanGaurav AgarwalPunita LalSushma AgrawalRama Devi MittalBalraj MittalPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 8, p e71073 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sonam Tulsyan Gaurav Agarwal Punita Lal Sushma Agrawal Rama Devi Mittal Balraj Mittal CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
description	<h4>Background</h4>Cell surface biomarker CD44 plays an important role in breast cancer cell growth, differentiation, invasion, angiogenesis and tumour metastasis. Therefore, we aimed to investigate the role of CD44 gene polymorphisms in breast cancer risk and prognosis in North Indian population.<h4>Materials & methods</h4>A total of 258 breast cancer patients and 241 healthy controls were included in the case-control study for risk prediction. According to RECIST, 114 patients who received neo-adjuvant chemotherapy were recruited for the evaluation of breast cancer prognosis. We examined the association of tagging SNP (rs353639) of Hapmap Gujrati Indians in Houston (GIH population) in CD44 gene along with a significant reported SNP (rs13347) in Chinese population by genotyping using Taqman allelic discrimination assays. Statistical analysis was done using SPSS software, version 17. In-silico analysis for prediction of functional effects was done using F-SNP and FAST-SNP.<h4>Results</h4>No significant association of both the genetic variants of the CD44 gene polymorphisms was found with breast cancer risk. On performing univariate analysis with clinicopathological characteristics and treatment response, we found significant association of genotype (CT+TT) of rs13347 polymorphism with earlier age of onset (P = 0.029, OR = 0.037). However, significance was lost in multivariate analysis. For rs353639 polymorphism, significant association was seen with clinical tumour size, both at the genotypic (AC+CC) (P = 0.039, OR = 3.02) as well as the allelic (C) (P = 0.042, OR = 2.87) levels. On performing multivariate analysis, increased significance of variant genotype (P = 0.017, OR = 4.29) and allele (P = 0.025, OR = 3.34) of rs353639 was found with clinical tumour size. In-silico analysis using F-SNP, showed altered transcriptional regulation for rs353639 polymorphism.<h4>Conclusions</h4>These findings suggest that CD44 rs353639 genetic variants may have significant effect in breast cancer prognosis. However, both the polymorphisms- rs13347 and rs353639 had no effect on breast cancer susceptibility.
format	article
author	Sonam Tulsyan Gaurav Agarwal Punita Lal Sushma Agrawal Rama Devi Mittal Balraj Mittal
author_facet	Sonam Tulsyan Gaurav Agarwal Punita Lal Sushma Agrawal Rama Devi Mittal Balraj Mittal
author_sort	Sonam Tulsyan
title	CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
title_short	CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
title_full	CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
title_fullStr	CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
title_full_unstemmed	CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.
title_sort	cd44 gene polymorphisms in breast cancer risk and prognosis: a study in north indian population.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/96a31733030b4fc9b8edb666f16157eb
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CD44 gene polymorphisms in breast cancer risk and prognosis: a study in North Indian population.

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