ID
45673
Beschreibung
Principal Investigator: Kwok-wai Lo, Chinese University of Hong Kong, Hong Kong, China MeSH: Nasopharyngeal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001244 Nasopharyngeal carcinoma (NPC) is an aggressive head and neck cancer characterized by Epstein-Barr virus (EBV) infection and dense lymphocyte infiltration. The scarcity of NPC genomic data hinders the understanding of NPC biology, disease progression, and rational therapy design. Here, we performed whole-exome sequencing (WES) on 111 micro-dissected EBV-positive NPCs, with 15 cases subjected to further whole-genome sequencing (WGS), to determine its mutational landscape. We identified enrichment for genomic aberrations of multiple negative regulators of the NF-kB pathway in a total of 41% of cases including CYLD, TRAF3, NFKBIA and NLRC5. Functional analysis confirmed novel inactivating CYLD mutations as drivers for NPC cell growth. The EBV oncoprotein latent member protein 1 (LMP1) functions to constitutively activate NF-kB signaling, and we observed mutual exclusivity among somatic NF-kB pathway aberrations and LMP1-overexpression, suggesting that NF-kB activation is selected for by both somatic and viral events during NPC pathogenesis.
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Versionen (1)
- 06.04.23 06.04.23 - Simon Heim
Rechteinhaber
Kwok-wai Lo, Chinese University of Hong Kong, Hong Kong, China
Hochgeladen am
6. April 2023
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs001244 Nasopharynx Cancer Whole Exome Sequencing
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, sample ID, analyte type, sample type, and tumor type of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, age, gender, family history of nasopharynx cancer, life status, time when participant was alive, stage of primary tumor, stage of metastasis, stage of lymph nodes, participants survive without signs or symptoms of disease, treatment, smoking, and alcohol consumption of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, sample ID, and sample use variable of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, sample ID, analyte type, sample type, and tumor type of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, age, gender, family history of nasopharynx cancer, life status, time when participant was alive, stage of primary tumor, stage of metastasis, stage of lymph nodes, participants survive without signs or symptoms of disease, treatment, smoking, and alcohol consumption of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
- Subject ID, sample ID, and sample use variable of participants with nasopharynx cancer and involved in the "Nasopharynx Cancer Whole Exome Sequencing" project.
C0680251 (UMLS CUI [1,2])
C0005558 (UMLS CUI [1,2])
C0238301 (UMLS CUI [1,3])
C0443288 (UMLS CUI [1,4])
C5395609 (UMLS CUI [1,5])