Results 71 to 80 of about 106,656 (293)

The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome

BMC Medical Genomics, 2011
Background Molecular alterations critical to development of cancer include mutations, copy number alterations (amplifications and deletions) as well as genomic rearrangements resulting in gene fusions. Massively parallel next generation sequencing, which
Basik Mark, Ferrario Cristiano, Przybytkowski Ewa   +2 more
doaj   +1 more source

New library construction method for single-cell genomes. [PDF]

PLoS ONE, 2017
A central challenge in sequencing single-cell genomes is the accurate determination of point mutations, phasing of these mutations, and identifying copy number variations with few assumptions.
Larry Xi, Alexander Belyaev, Sandra Spurgeon, Xiaohui Wang, Haibiao Gong, Robert Aboukhalil, Richard Fekete   +6 more
doaj   +1 more source

Detection rate for ESR1 mutations is higher in circulating‐tumor‐cell‐derived genomic DNA than in paired plasma cell‐free DNA samples as revealed by ddPCR

Molecular Oncology, EarlyView.
Analysis of ESR1 mutations in plasma cell‐free DNA (cfDNA) is highly important for the selection of treatment in patients with breast cancer. Using multiplex‐ddPCR and identical blood draws, we investigated whether circulating tumor cells (CTCs) and cfDNA provide similar or complementary information for ESR1 mutations.
Stavroula Smilkou, Aliki Ntzifa, Victoria Tserpeli, Ioanna Balgkouranidou, Alkistis Papatheodoridi, Evangelia Razis, Helena Linardou, Christos Papadimitriou, Amanda Psyrri, Flora Zagouri, Stylianos Kakolyris, Evi Lianidou   +11 more
wiley   +1 more source

A genetic risk score for glioblastoma multiforme based on copy number variations

Cancer Treatment and Research Communications, 2021
Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj  

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To investigate the clinical phenotype and genotype of facioscapulohumeral muscular dystrophy type 1 (FSHD1) and the correlation between the two.
Huan LI, Qiu CHEN, Jin-fu LIN, Zi-yu LIAO, Liang WANG, Jing LI, Yu-ling ZHU, Cheng ZHANG   +7 more
doaj  

Absolute measurement of gene transcripts with Selfie-digital PCR

Scientific Reports, 2017
Absolute measurement of the number of RNA transcripts per gene is necessary to compare gene transcription among different tissues or experimental conditions and to assess transcription of genes that have a variable copy number per cell such as ...
Petar Podlesniy, Ramon Trullas
doaj   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi, Eric Feng, Nicholas R. Rydzewski, Amy K. Taylor, Jamie M. Sperger, Yue Shi, Kyle T. Helzer, Matthew L. Bootsma, Viridiana Carreno, Alex H. Chang, Luke A. Nunamaker, Grace C. Blitzer, Tianfu Andy Shang, Aishwarya Subramanian, Anders Bjartell, Andreas Josefsson, Pernilla Wikström, Emily Feng, Manish Kohli, Rendong Yang, Scott M. Dehm, Eric J. Small, Rahul Aggarwal, David A. Quigley, Joshua M. Lang, Shuang G. Zhao, Martin Sjöström   +26 more
wiley   +1 more source

Genes with Relevance for Early to Late Progression of Colon Carcinoma Based on Combined Genomic and Transcriptomic Information from the Same Patients

Cancer Informatics, 2010
Background Genetic and epigenetic alterations in colorectal cancer are numerous. However, it is difficult to judge whether such changes are primary or secondary to the appearance and progression of tumors.
Kristina K. Lagerstedt, Erik Kristiansson, Christina Lönnroth, Marianne Andersson, Britt-Marie IresjÖ, Annika Gustafsson, Elisabeth Hansson, Ulf Kressner, Svante Nordgren, Fredrik Enlund, Kent Lundholm   +10 more
doaj   +2 more sources