Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma

Primary hepatocellular carcinoma (HCC) mainly develops in subjects chronically infected with hepatitis B (HBV) and C (HCV) viruses through a multistep process characterized by the accumulation of genetic alterations in the human genome. Nucleotide changes in coding regions (i.e. TP53, CTNNB1, ARID1A...

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Vydáno v:Infectious agents and cancer Ročník 12; číslo 1; s. 27 - 9
Hlavní autoři: Pezzuto, Francesca, Buonaguro, Luigi, Buonaguro, Franco M., Tornesello, Maria Lina
Médium: Journal Article
Jazyk:angličtina
Vydáno: London BioMed Central 19.05.2017
Springer Nature B.V
BMC
Témata:
Biomedical and Life Sciences
Biomedicine
Brain cancer
Cancer Research
Carcinogenesis
Cell cycle
Chromosomes
Clinical oncology
Deoxyribonucleic acid
DNA
DNA methylation
Elongation
Environmental factors
Etiology
Gene expression
Genomes
Geographical distribution
HCV and Cancer series
Hepatitis
Hepatitis B
Hepatitis B virus
Hepatitis C virus
Hepatocellular carcinoma
Infections
Infectious Diseases
Literature reviews
Liver cancer
Liver diseases
Mutation
Mutation hot spots
Mutation rates
Oncology
p53 Protein
Pathogenesis
Review
Telomerase
TERT promoter mutations
Tropical Medicine
Tumors
United States > US
Europe
TERT promoter mutations
Hepatocellular carcinoma
Hepatitis B virus
Hepatitis C virus
Telomerase
ISSN:1750-9378, 1750-9378
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Shrnutí:Primary hepatocellular carcinoma (HCC) mainly develops in subjects chronically infected with hepatitis B (HBV) and C (HCV) viruses through a multistep process characterized by the accumulation of genetic alterations in the human genome. Nucleotide changes in coding regions (i.e. TP53, CTNNB1, ARID1A and ARID2) as well as in non-coding regions (i.e. TERT promoter) are considered cancer drivers for HCC development with variable frequencies in different geographic regions depending on the etiology and environmental factors. Recurrent hot spot mutations in TERT promoter (G > A at-124 bp; G > A at −146 bp), have shown to be common events in many tumor types including HCC and to up regulate the expression of telomerases. We performed a comprehensive review of the literature evaluating the differential distribution of TERT promoter mutations in 1939 primary HCC from four continents. Mutation rates were found higher in Europe (56.6%) and Africa (53.3%) than America (40%) and Asia (42.5%). In addition, HCV-related HCC were more frequently mutated (44.8% in US and 69.7% in Asia) than HBV-related HCC (21.4% in US and 45.5% in Africa). HCC cases associated to factors other than hepatitis viruses are also frequently mutated in TERT promoter (43.6%, 52.6% and 57.7% in USA, Asia and Europe, respectively). These results support a major role for telomere elongation in HCV-related and non-viral related hepatic carcinogenesis and suggest that TERT promoter mutations could represent a candidate biomarker for the early detection of liver cancer in subjects with HCV infection or with metabolic liver diseases.
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ISSN:1750-9378
1750-9378
DOI:10.1186/s13027-017-0138-5