Unraveling most abundant mutational signatures in head and neck cancer.
Adult
Aged
Aged, 80 and over
Alcohol Drinking
/ adverse effects
Biomarkers, Tumor
/ genetics
Cyclin-Dependent Kinase Inhibitor p16
/ genetics
DNA Mutational Analysis
Gene Expression Profiling
Genetic Predisposition to Disease
Germany
/ epidemiology
Head and Neck Neoplasms
/ epidemiology
Human papillomavirus 16
/ isolation & purification
Humans
Kaplan-Meier Estimate
Male
Middle Aged
Papillomavirus Infections
/ epidemiology
RNA-Seq
Risk Factors
Squamous Cell Carcinoma of Head and Neck
/ epidemiology
Tobacco Use
/ adverse effects
Exome Sequencing
HNC
etiological risk factors
mutational signature
pathogenesis
prognostic pattern
whole exome sequencing
Journal
International journal of cancer
ISSN: 1097-0215
Titre abrégé: Int J Cancer
Pays: United States
ID NLM: 0042124
Informations de publication
Date de publication:
01 01 2021
01 01 2021
Historique:
received:
13
11
2019
revised:
04
08
2020
accepted:
04
08
2020
pubmed:
16
9
2020
medline:
11
6
2021
entrez:
15
9
2020
Statut:
ppublish
Résumé
Genomic alterations are a driving force in the multistep process of head and neck cancer (HNC) and result from the interaction of exogenous environmental exposures and endogenous cellular processes. Each of these processes leaves a characteristic pattern of mutations on the tumor genome providing the unique opportunity to decipher specific signatures of mutational processes operative during HNC pathogenesis and to address their prognostic value. Computational analysis of whole exome sequencing data of the HIPO-HNC (Heidelberg Center for Personalized Oncology-head and neck cancer) (n = 83) and TCGA-HNSC (The Cancer Genome Atlas-Head and Neck Squamous Cell Carcinoma) (n = 506) cohorts revealed five common mutational signatures (Catalogue of Somatic Mutations in Cancer [COSMIC] Signatures 1, 2, 3, 13 and 16) and demonstrated their significant association with etiological risk factors (tobacco, alcohol and HPV16). Unsupervised hierarchical clustering identified four clusters (A, B, C1 and C2) of which Subcluster C2 was enriched for cases with a higher frequency of signature 16 mutations. Tumors of Subcluster C2 had significantly lower p16
Substances chimiques
Biomarkers, Tumor
0
CDKN2A protein, human
0
Cyclin-Dependent Kinase Inhibitor p16
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-127Informations de copyright
© 2020 The Authors. International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.
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