RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer
Ning JiangXiaogang Zhao

Abstract

To distinguish early-stage lung cancer from benign disease in pulmonary nodules, especially lesions with ground-glass opacity (GGO), we assessed gene mutations of ctDNA in peripheral blood using targeted next-generation sequencing (NGS). Single pulmonary nodule patients without mediastinal lymph nodes and symptoms that were hard to diagnose by chest CT and lung cancer biomarker measurement in multiple medical centers were enrolled into the study. All patients accepted minimally invasive surgery but refused preoperative biopsy. Gene mutations in preoperative blood samples were detected by targeted NGS. Mutations with significant differences between lung tumors and benign lesions, as grouped by postoperative pathology, were screened. Protein expression was determined by immunohistochemistry. Highly expressed genes were selected as biomarkers to verify the mutations in peripheral blood. In the training set, the RNF213, KMT2D, CSMD3 and LRP1B genes were mutated more frequently in early-stage lung cancer (27 cases) than in benign nodules (15 cases) (P < 0.05). High expression of the RNF213 gene in lung cancers and low expression in benign diseases were seen by immunohistochemistry. The RNF213 gene was mutated in 25% of lung cancer s...Continue Reading

References

Jul 22, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Hideki KawaiJunichi Ogawa
Nov 1, 2005·Proceedings of the National Academy of Sciences of the United States of America·Frank DiehlBert Vogelstein
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Nov 4, 2010·Radiology·UNKNOWN National Lung Screening Trial Research TeamCarl J Zylak
Jan 22, 2011·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·William D TravisDavid Yankelewitz
May 13, 2011·Nature Reviews. Cancer·Heidi SchwarzenbachKlaus Pantel
Dec 15, 2011·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Johanna AtamaniukThomas Weichhart
May 15, 2012·Bioinformatics·Christopher T SaundersR Keira Cheetham
Nov 7, 2012·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Jan 22, 2013·CA: a Cancer Journal for Clinicians·Rebecca SiegelAhmedin Jemal
Feb 12, 2013·Nature Biotechnology·Kristian CibulskisGad Getz
May 3, 2013·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Heidrun GevenslebenNicholas C Turner
Jun 4, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Safia El MessaoudiAlain R Thierry
Oct 23, 2013·Cancer Research·Klaus Pantel, Catherine Alix-Panabières
Feb 21, 2014·Science Translational Medicine·Chetan BettegowdaLuis A Diaz
Dec 19, 2014·Asian Pacific Journal of Cancer Prevention : APJCP·Bing WangHong Qiu
Apr 9, 2015·Annals of Oncology : Official Journal of the European Society for Medical Oncology·J TieP Gibbs
Dec 17, 2015·Advances in Experimental Medicine and Biology·Lindsey A TorreAhmedin Jemal
Feb 28, 2016·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Tze-Kiong ErEing-Mei Tsai
May 10, 2016·Current Opinion in Pulmonary Medicine·Lynn T Tanoue
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Oct 24, 2017·Expert Review of Molecular Diagnostics·Can PiQing Zhou
Oct 27, 2017·Translational Research : the Journal of Laboratory and Clinical Medicine·Enrica RumiatoDaniela Saggioro
Apr 8, 2018·Cancer Genetics·Caitlin M Stewart, Dana W Y Tsui
Apr 24, 2018·European Journal of Human Genetics : EJHG·Ondrej PösBálint Nagy
Apr 3, 2019·Annals of Oncology : Official Journal of the European Society for Medical Oncology·U PastorinoA Marchianò
Jan 29, 2020·Annals of Oncology : Official Journal of the European Society for Medical Oncology·U PastorinoA Marchianò

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
DNA Assay
PCR
biopsies

Software Mentioned

SAM
SPSS Statistics
Sambamba
Samblaster
Burrows Aligner ( BWA )
BWA
MuTect
ANNOVAR
Strelka

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.