ID
45434
Description
Principal Investigator: Derek Y. Chiang, PhD, University of North Carolina, Chapel Hill, NC, USA MeSH: adult primary hepatocellular carcinoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000627 Genetic alterations in specific driver genes lead to disruption of cellular pathways and are critical events in the instigation and progression of hepatocellular carcinoma. As a prerequisite for individualized cancer treatment, we sought to characterize the landscape of recurrent somatic mutations in hepatocellular carcinoma. We performed whole exome sequencing on 87 hepatocellular carcinomas and matched normal adjacent tissues to an average coverage of 59x. The overall mutation rate was roughly 2 mutations per Mb, with a median of 45 non-synonymous mutations that altered the amino acid sequence (range 2 to 381). We found recurrent mutations in several genes with high transcript levels: TP53 (18%), CTNNB1 (10%), KEAP1 (8%), C16orf62 (8%), MLL4 (7%) and RAC2 (5%). Significantly affected gene families include the nucleotide-binding domain and leucine rich repeat containing family, calcium channel subunits, and histone methyltransferases. In particular, the MLL family methyltransferases for histone H3 lysine 4 were mutated in 20% of tumors. Conclusion: The NFE2L2-KEAP1 and MLL pathways are recurrently mutated in multiple cohorts of hepatocellular carcinoma.
Link
Keywords
Versions (1)
- 11/29/22 11/29/22 - Chiara Middel
Copyright Holder
Derek Y. Chiang, PhD, University of North Carolina, Chapel Hill, NC, USA
Uploaded on
November 29, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000627 UNC Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)
Subject ID, consent group, subject source, subject source ID, and affection status of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- Sample ID, body site where sample was collected, analyte type, histological type of samples, primary or metastatic tumor or transformed cell line, location of primary tumor, and sequencing center of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
Similar models
Subject ID, consent group, subject source, subject source ID, and affection status of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- StudyEvent: SEV1
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- Subject ID, sample ID, sample source, sample source ID, and sample use variable obtained from participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
- Sample ID, body site where sample was collected, analyte type, histological type of samples, primary or metastatic tumor or transformed cell line, location of primary tumor, and sequencing center of participants with hepatocellular carcinoma and involved in the "University of North Carolina at Chapel Hill (UNC) Hepatocellular Carcinoma Study by Exome Sequencing (HCCSES)" project.
C0242481 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])