Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.

<h4>Background</h4>Peroxisome proliferator-activated receptor delta (PPARD) is nuclear hormone receptor involved in colorectal cancer (CRC) differentiation and progression. The purpose of this study was to determine prevalence and spectrum of variants in the PPARD gene in CRC, and their...

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Autores principales:	Ivana Ticha, Sebastian Gnosa, Annika Lindblom, Tao Liu, Xiao-Feng Sun
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/41e0b8ddd07744bea04eafa9e468a9d1
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spelling	oai:doaj.org-article:41e0b8ddd07744bea04eafa9e468a9d12021-11-18T08:39:29ZVariants of the PPARD gene and their clinicopathological significance in colorectal cancer.1932-620310.1371/journal.pone.0083952https://doaj.org/article/41e0b8ddd07744bea04eafa9e468a9d12013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24391853/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Peroxisome proliferator-activated receptor delta (PPARD) is nuclear hormone receptor involved in colorectal cancer (CRC) differentiation and progression. The purpose of this study was to determine prevalence and spectrum of variants in the PPARD gene in CRC, and their contribution to clinicopathological endpoints.<h4>Methods and findings</h4>Direct sequencing of the PPARD gene was performed in 303 primary tumors, in blood samples from 50 patients with ≥ 3 affected first-degree relatives, 50 patients with 2 affected first-degree relatives, 50 sporadic patients, 360 healthy controls, and in 6 colon cancer cell lines. Mutation analysis revealed 22 different transversions, 7 of them were novel. Three of all variants were somatic (c.548A>G, p.Y183C, c.425-9C>T, and c.628-16G>A). Two missense mutations (p.Y183C and p.R258Q) were pathogenic using in silico predictive program. Five recurrent variants were detected in/adjacent to the exons 4 (c.1-87T>C, c.1-67G>A, c.130+3G>A, and c.1-101-8C>T) and exon 7 (c.489T>C). Variant c.489C/C detected in tumors was correlated to worse differentiation (P = 0.0397).<h4>Conclusions</h4>We found 7 novel variants among 22 inherited or acquired PPARD variants. Somatic and/or missense variants detected in CRC patients are rare but indicate the clinical importance of the PPARD gene.Ivana TichaSebastian GnosaAnnika LindblomTao LiuXiao-Feng SunPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 12, p e83952 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ivana Ticha Sebastian Gnosa Annika Lindblom Tao Liu Xiao-Feng Sun Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
description	<h4>Background</h4>Peroxisome proliferator-activated receptor delta (PPARD) is nuclear hormone receptor involved in colorectal cancer (CRC) differentiation and progression. The purpose of this study was to determine prevalence and spectrum of variants in the PPARD gene in CRC, and their contribution to clinicopathological endpoints.<h4>Methods and findings</h4>Direct sequencing of the PPARD gene was performed in 303 primary tumors, in blood samples from 50 patients with ≥ 3 affected first-degree relatives, 50 patients with 2 affected first-degree relatives, 50 sporadic patients, 360 healthy controls, and in 6 colon cancer cell lines. Mutation analysis revealed 22 different transversions, 7 of them were novel. Three of all variants were somatic (c.548A>G, p.Y183C, c.425-9C>T, and c.628-16G>A). Two missense mutations (p.Y183C and p.R258Q) were pathogenic using in silico predictive program. Five recurrent variants were detected in/adjacent to the exons 4 (c.1-87T>C, c.1-67G>A, c.130+3G>A, and c.1-101-8C>T) and exon 7 (c.489T>C). Variant c.489C/C detected in tumors was correlated to worse differentiation (P = 0.0397).<h4>Conclusions</h4>We found 7 novel variants among 22 inherited or acquired PPARD variants. Somatic and/or missense variants detected in CRC patients are rare but indicate the clinical importance of the PPARD gene.
format	article
author	Ivana Ticha Sebastian Gnosa Annika Lindblom Tao Liu Xiao-Feng Sun
author_facet	Ivana Ticha Sebastian Gnosa Annika Lindblom Tao Liu Xiao-Feng Sun
author_sort	Ivana Ticha
title	Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
title_short	Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
title_full	Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
title_fullStr	Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
title_full_unstemmed	Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.
title_sort	variants of the ppard gene and their clinicopathological significance in colorectal cancer.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/41e0b8ddd07744bea04eafa9e468a9d1
work_keys_str_mv	AT ivanaticha variantsoftheppardgeneandtheirclinicopathologicalsignificanceincolorectalcancer AT sebastiangnosa variantsoftheppardgeneandtheirclinicopathologicalsignificanceincolorectalcancer AT annikalindblom variantsoftheppardgeneandtheirclinicopathologicalsignificanceincolorectalcancer AT taoliu variantsoftheppardgeneandtheirclinicopathologicalsignificanceincolorectalcancer AT xiaofengsun variantsoftheppardgeneandtheirclinicopathologicalsignificanceincolorectalcancer
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Variants of the PPARD gene and their clinicopathological significance in colorectal cancer.

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