scholarly journals Introductory Chapter: Gene Profiling in Cancer in the Era of Metagenomics and Precision Medicine

Author(s):  
Katerina Pierouli ◽  
Thanasis Mitsis ◽  
Eleni Papakonstantinou ◽  
Dimitrios Vlachakis
2019 ◽  
Vol 37 (1) ◽  
Author(s):  
Marin Ishikawa ◽  
Hideyuki Hayashi ◽  
Naoya Sakamoto ◽  
Shinya Tanaka ◽  
Hiroshi Nishihara

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13115-e13115
Author(s):  
Hideyuki Hayashi ◽  
Shigeki Tanishima ◽  
Ryo Mori ◽  
Yasunobu Okamura ◽  
Toraji Amano ◽  
...  

e13115 Background: The development of clinical sequence systems in hospitals is a critical issue in Japan, especially for medical oncology, as multiplex gene profiling enables precision medicine for cancer. We have launched an in-house clinical sequencing system,“CLHURC” to perform exhaustive targeted exome sequencing for patients with all types of cancer, as an outpatient service. We have analyzed the clinical utility of this system. Methods: Genomic DNA was extracted from tumor tissues and peripheral blood sera of 81 patients with different stages of cancer, during April-December 2016. The top five types of primary cancer were pancreas (16%), colorectal (16%), breast (10%), stomach (9%), and lung (6%). We performed a targeted amplicon exome sequencing for 160 cancer-related genes. The sequencing data was analyzed using an original bioinformatics pipeline within three days, and we identified cancer-specific somatic gene alterations such as SNV (Single Nucleotide Variation), Ins (Insertion)/Del (Deletion), and CNV (Copy Number Variation). The primary endpoints were the detection rates of potential actionable and druggable genes. The secondary endpoints were the detection rates of incidental germline variants and the period from initial visit to elucidation of the results to the patients. Results: Actionable and druggable gene alterations were detected in 90% (73/81) and 51% (41/81) of the subjects, respectively. Druggable gene alterations were frequently detected in BRCA1/2 (11/41), PIK3CA (9/41), AKT1/2 (6/41), TSC1 (5/41), and PTEN (5/41). Surprisingly, incidental germline variants were detected in 31% (25/81) of the patients, and were found in BRCA1/2 (5/25), APC (5/25), and TSC1(3/25), among others. The median period of examination was 21 days (10-66 days). Twelve out of the 81 patients (15%) were treated with therapeutic agents, based on the results of our clinical sequencing. Conclusions: We have established a robust in-house clinical sequencing system, “CLHURC,” and have initiated the development of precision medicine for cancer in Japan. Our novel clinical sequencing system could improve individualized medicine against cancer throughout Japan and Asia.


2004 ◽  
Vol 171 (4S) ◽  
pp. 486-487
Author(s):  
Judith Adams ◽  
Eva Kiss ◽  
Shijun Wang ◽  
Hermann-Josef Groene ◽  
Markus Hohenfellner

Author(s):  
John Marmysz

This introductory chapter examines the “problem” of nihilism, beginning with its philosophical origins in the ideas of Plato, Immanuel Kant, Friedrich Nietzsche and Martin Heidegger. It is argued that film is an inherently nihilistic medium involving the evocation of illusory worlds cut loose from objective reality. This nihilism of film is distinguished from nihilism in film; the nihilistic content also present in some (but not all) movies. Criticisms of media nihilism by authors such as Thomas Hibbs and Darren Ambrose are examined. It is then argued, contrary to such critics, that cinematic nihilism is not necessarily degrading or destructive. Because the nihilism of film encourages audiences to linger in the presence of nihilism in film, cinematic nihilism potentially trains audiences to learn the positive lessons of nihilism while remaining safely detached from the sorts of dangers depicted on screen.


Author(s):  
Pål Kolstø ◽  
Helge Blakkisrud

Russian societal nationalism comes in various guises, both ethnic and imperialist. Also Putin’s rhetoric is marked by the tensions between ethnic and state-focused, imperialist thinking. Noting the complex interplay of state nationalism and societal nationalism, this introductory chapter examines the mental framework within which Russian politicians were acting prior to the decision to annex Crimea. The chapter develops a typology of Russian nationalisms, surveys recent developments, and presents the three-part structure of this book: official nationalism, radical and other societal nationalisms, and identities/otherings. It concludes that after the annexation of Crimea, when the state took over the agenda of both ethnic and imperialist nationalists in Russia, societal nationalism finds itself at low ebb.


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