Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma.
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
07 Oct 2021
07 Oct 2021
Historique:
received:
08
04
2021
accepted:
23
08
2021
entrez:
8
10
2021
pubmed:
9
10
2021
medline:
9
10
2021
Statut:
epublish
Résumé
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 Tp*C 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.
Identifiants
pubmed: 34620846
doi: 10.1038/s41525-021-00244-2
pii: 10.1038/s41525-021-00244-2
pmc: PMC8497615
doi:
Types de publication
Journal Article
Langues
eng
Pagination
82Subventions
Organisme : V Foundation for Cancer Research (V Foundation)
ID : V2015-009
Organisme : V Foundation for Cancer Research (V Foundation)
ID : DVP2018-007
Organisme : Helse Vest (Western Norway Regional Health Authority)
ID : F-11486 (912227)
Organisme : Helse Vest (Western Norway Regional Health Authority)
ID : 27804
Organisme : Kreftforeningen (Norwegian Cancer Society)
ID : 190202
Informations de copyright
© 2021. The Author(s).
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