Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma

Abstract Despite recent advances in the prevention of cervical cancer, the disease remains a leading cause of cancer-related deaths in women worldwide. By applying the GISTIC2.0 and/or the MutSig2CV algorithms on 430 whole-exome-sequenced cervical carcinomas, we identified previously unreported sign...

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Autores principales:	Mari K. Halle, Aishwarya Sundaresan, Jianqing Zhang, Chandra Sekhar Pedamallu, Vinodh Srinivasasainagendra, Jessica Blair, Dewey Brooke, Bjørn I. Bertelsen, Kathrine Woie, Sadeep Shrestha, Hemant Tiwari, Yick Fu Wong, Camilla Krakstad, Akinyemi I. Ojesina
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b3ff1a185aaf4482bae4d581122715c0
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spelling	oai:doaj.org-article:b3ff1a185aaf4482bae4d581122715c02021-12-02T19:16:33ZGenomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma10.1038/s41525-021-00244-22056-7944https://doaj.org/article/b3ff1a185aaf4482bae4d581122715c02021-10-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00244-2https://doaj.org/toc/2056-7944Abstract Despite recent advances in the prevention of cervical cancer, the disease remains a leading cause of cancer-related deaths in women worldwide. By applying the GISTIC2.0 and/or the MutSig2CV algorithms on 430 whole-exome-sequenced cervical carcinomas, we identified previously unreported significantly mutated genes (SMGs) (including MSN, GPX1, SPRED3, FAS, and KRT8), amplifications (including NFIA, GNL1, TGIF1, and WDR87) and deletions (including MIR562, PVRL1, and NTM). Subset analyses of 327 squamous cell carcinomas and 86 non-squamous cell carcinomas revealed previously unreported SMGs in BAP1 and IL28A, respectively. Distinctive copy number alterations related to tumors predominantly enriched for CpG- and TpC mutations were observed. CD274, GRB2, KRAS, and EGFR were uniquely significantly amplified within the Tp*C-enriched tumors. A high frequency of aberrations within DNA damage repair and chromatin remodeling genes were detected. Facilitated by the large sample size derived from combining multiple datasets, this study reveals potential targets and prognostic markers for cervical cancer.Mari K. HalleAishwarya SundaresanJianqing ZhangChandra Sekhar PedamalluVinodh SrinivasasainagendraJessica BlairDewey BrookeBjørn I. BertelsenKathrine WoieSadeep ShresthaHemant TiwariYick Fu WongCamilla KrakstadAkinyemi I. OjesinaNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Mari K. Halle Aishwarya Sundaresan Jianqing Zhang Chandra Sekhar Pedamallu Vinodh Srinivasasainagendra Jessica Blair Dewey Brooke Bjørn I. Bertelsen Kathrine Woie Sadeep Shrestha Hemant Tiwari Yick Fu Wong Camilla Krakstad Akinyemi I. Ojesina Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
description	Abstract Despite recent advances in the prevention of cervical cancer, the disease remains a leading cause of cancer-related deaths in women worldwide. By applying the GISTIC2.0 and/or the MutSig2CV algorithms on 430 whole-exome-sequenced cervical carcinomas, we identified previously unreported significantly mutated genes (SMGs) (including MSN, GPX1, SPRED3, FAS, and KRT8), amplifications (including NFIA, GNL1, TGIF1, and WDR87) and deletions (including MIR562, PVRL1, and NTM). Subset analyses of 327 squamous cell carcinomas and 86 non-squamous cell carcinomas revealed previously unreported SMGs in BAP1 and IL28A, respectively. Distinctive copy number alterations related to tumors predominantly enriched for CpG- and TpC mutations were observed. CD274, GRB2, KRAS, and EGFR were uniquely significantly amplified within the Tp*C-enriched tumors. A high frequency of aberrations within DNA damage repair and chromatin remodeling genes were detected. Facilitated by the large sample size derived from combining multiple datasets, this study reveals potential targets and prognostic markers for cervical cancer.
format	article
author	Mari K. Halle Aishwarya Sundaresan Jianqing Zhang Chandra Sekhar Pedamallu Vinodh Srinivasasainagendra Jessica Blair Dewey Brooke Bjørn I. Bertelsen Kathrine Woie Sadeep Shrestha Hemant Tiwari Yick Fu Wong Camilla Krakstad Akinyemi I. Ojesina
author_facet	Mari K. Halle Aishwarya Sundaresan Jianqing Zhang Chandra Sekhar Pedamallu Vinodh Srinivasasainagendra Jessica Blair Dewey Brooke Bjørn I. Bertelsen Kathrine Woie Sadeep Shrestha Hemant Tiwari Yick Fu Wong Camilla Krakstad Akinyemi I. Ojesina
author_sort	Mari K. Halle
title	Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
title_short	Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
title_full	Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
title_fullStr	Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
title_full_unstemmed	Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma
title_sort	genomic alterations associated with mutational signatures, dna damage repair and chromatin remodeling pathways in cervical carcinoma
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/b3ff1a185aaf4482bae4d581122715c0
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Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma

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