ID

45777

Beschreibung

Principal Investigator: Susan K. Dutcher, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001106 Despite the growing incidence of hepatocellular carcinoma (HCC) due to increased hepatitis C virus infection and non-alcoholic steatohepatitis in Western populations, the genetic determinants of this cancer have yet to be established. A minority (15-20%) of HCC occurs in livers without cirrhosis or other chronic disease. Because the liver is functionally preserved in these patients and surgical resection of the tumor may be performed safely, and because of the scarcity of livers available for transplantation, non-cirrhotic patients undergo surgical resection for HCC treatment. These resected tumors present investigatory opportunities in two ways: First, they provide tumor specimen which have not been treated with chemotherapy and embolization. Second, the absence of cirrhosis may provide an unconfounded background from which to investigate the genetic tumorigenesis of HCC. In livers with cirrhosis, genetic instability is prevalent as assessed by assays for microsatellite instability, loss of heterozygosity and aberrant DNA methylation. In contrast, in livers without cirrhosis, the non-tumor tissue surrounding HCC have been found to have fewer genetic aberrations. It has been postulated that the pathologic process of cirrhosis may result in the accumulation of many "passenger"; as well as "driver" mutations, and that the examination of the HCC cancer genome may be facilitated in non-cirrhotic livers because of the absence of an accumulated background noise of mutations.

Link

dbGaP-study=phs001106

Stichworte

  1. 20.06.23 20.06.23 - Chiara Middel
Rechteinhaber

Susan K. Dutcher, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA

Hochgeladen am

20. Juni 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs001106 Genomics of Hepatocellular Carcinoma

Subject ID, affection status, and consent group of participants with hepatocellular carcinoma and involved in the "Genomics of Hepatocellular Carcinoma" project.

pht007335
Beschreibung

pht007335

Alias
UMLS CUI [1,1]
C3846158
De-identified subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Allowable research use
Beschreibung

CONSENT

Datentyp

text

Alias
UMLS CUI [1,1]
C1879533
UMLS CUI [1,2]
C0242481
Is subject affected with hepatocellular carcinoma
Beschreibung

AFFECTION_STATUS

Datentyp

text

Alias
UMLS CUI [1,1]
C2239176
UMLS CUI [1,2]
C2697585
UMLS CUI [1,3]
C0871641
UMLS CUI [1,4]
C0449438

Ähnliche Modelle

Subject ID, affection status, and consent group of participants with hepatocellular carcinoma and involved in the "Genomics of Hepatocellular Carcinoma" project.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht007335
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Allowable research use
text
C1879533 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
Code List
Allowable research use
CL Item
Disease-Specific (Cancer) (DS-CA) (1)
Item
Is subject affected with hepatocellular carcinoma
text
C2239176 (UMLS CUI [1,1])
C2697585 (UMLS CUI [1,2])
C0871641 (UMLS CUI [1,3])
C0449438 (UMLS CUI [1,4])
Code List
Is subject affected with hepatocellular carcinoma
CL Item
Yes (1)

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