Frequent Germline and Somatic Single Nucleotide Variants in the Promoter Region of the Ribosomal RNA Gene in Japanese Lung Adenocarcinoma Patients.
Adenocarcinoma of Lung
/ genetics
Aged
Asian People
/ genetics
Base Sequence
Cell Line, Tumor
Dactinomycin
/ pharmacology
Databases, Genetic
Female
Genetic Loci
Germ-Line Mutation
/ genetics
Humans
Lung Neoplasms
/ genetics
Male
Middle Aged
Multivariate Analysis
Neoplasm Recurrence, Local
/ pathology
Polymorphism, Single Nucleotide
/ genetics
Promoter Regions, Genetic
Proportional Hazards Models
RNA, Ribosomal
/ genetics
Reproducibility of Results
Survival Analysis
lung adenocarcinoma
prognosis
rDNA
ribosome biogenesis
single nucleotide variant
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
03 11 2020
03 11 2020
Historique:
received:
08
09
2020
revised:
28
10
2020
accepted:
29
10
2020
entrez:
6
11
2020
pubmed:
7
11
2020
medline:
16
6
2021
Statut:
epublish
Résumé
Ribosomal RNA (rRNA), the most abundant non-coding RNA species, is a major component of the ribosome. Impaired ribosome biogenesis causes the dysfunction of protein synthesis and diseases called "ribosomopathies," including genetic disorders with cancer risk. However, the potential role of rRNA gene (rDNA) alterations in cancer is unknown. We investigated germline and somatic single-nucleotide variants (SNVs) in the rDNA promoter region (positions -248 to +100, relative to the transcription start site) in 82 lung adenocarcinomas (LUAC). Twenty-nine tumors (35.4%) carried germline SNVs, and eight tumors (9.8%) harbored somatic SNVs. Interestingly, the presence of germline SNVs between positions +1 and +100 (
Identifiants
pubmed: 33153169
pii: cells9112409
doi: 10.3390/cells9112409
pmc: PMC7692307
pii:
doi:
Substances chimiques
RNA, Ribosomal
0
Dactinomycin
1CC1JFE158
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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