Results 41 to 50 of about 13,351 (224)

Bayesian Meta-Analysis of Penetrance for Cancer Risk [PDF]

arXiv, 2023
Multi-gene panel testing allows many cancer susceptibility genes to be tested quickly at a lower cost making such testing accessible to a broader population. Thus, more patients carrying pathogenic germline mutations in various cancer-susceptibility genes are being identified.
arxiv  

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

How germline genes promote malignancy in cancer cells

BioEssays, Volume 45, Issue 1, January 2023., 2023
We hypothesize that activation of a “germline program” promotes oncogenesis. Expression of otherwise germline specific genes may result in pseudomeiotic activity, thereby promoting oncogenesis through genomic instability. Other processes that are differentially regulated in the germline, such as migration and epigenetic – and metabolic plasticity, may ...
Jan Willem Bruggeman, Jan Koster, Ans M. M. van Pelt, Dave Speijer, Geert Hamer   +4 more
wiley   +1 more source

Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics

Molecular Oncology, EarlyView.
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen, Pieter‐Jan Volders, Ellen Geerdens, Severine Berden, Joni Van der Meulen, Aaron De Cock, Stefanie Vermeire, Jacques Van Huysse, Marie de Barsy, Gabriela Beniuga, Wendy W. J. de Leng, Anne M. L. Jansen, Imke Demers, Zeliha Ozgur, Hendrikus Jan Dubbink, Ernst‐Jan M. Speel, Wilfred F. J. van IJcken, Brigitte Maes   +17 more
wiley   +1 more source

Chromosomal breaks at the origin of small tandem DNA duplications

BioEssays, Volume 45, Issue 1, January 2023., 2023
Small tandem DNA duplications form a specific mutational signature frequently found in human disease alleles and cancer genes. Here we hypothesize that these duplications mainly arise at chromosomal DNA breaks that result from two closely located single‐stranded nicks, through error‐prone repair by the non‐homologous end‐joining pathway. Abstract Small
Joost Schimmel, Marloes D. van Wezel, Robin van Schendel, Marcel Tijsterman   +3 more
wiley   +1 more source

Germline mutation contribution to chromosomal instability [PDF]

Endocrine-Related Cancer, 2017
Genomic instability is a feature of cancer that fuels oncogenesis through increased frequency of genetic disruption, leading to loss of genomic integrity and promoting clonal evolution as well as tumor transformation. A form of genomic instability prevalent across cancer types is chromosomal instability, which involves karyotypic changes including ...
Joanne Ngeow, Sock Hoai Chan
openaire   +3 more sources

Computational Performance of a Germline Variant Calling Pipeline for Next Generation Sequencing [PDF]

arXiv, 2020
With the booming of next generation sequencing technology and its implementation in clinical practice and life science research, the need for faster and more efficient data analysis methods becomes pressing in the field of sequencing. Here we report on the evaluation of an optimized germline mutation calling pipeline, HummingBird, by assessing its ...
arxiv  

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

Molecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas, Konstantinos Voutetakis, Vivian Kosmidou, Spyridon Tsikalakis, Spyridon Roditis, Konstantinos Pateas, Ryangguk Kim, Kymberleigh Pagel, Stephan Wolf, Gregor Warsow, Antonia Dimitrakopoulou‐Strauss, Georgios N. Zografos, Alexander Pintzas, Johannes Betge, Olga Papadodima, Stefan Wiemann   +15 more
wiley   +1 more source

Semi-Automating Knowledge Base Construction for Cancer Genetics [PDF]

arXiv, 2020
In this work, we consider the exponentially growing subarea of genetics in cancer. The need to synthesize and centralize this evidence for dissemination has motivated a team of physicians to manually construct and maintain a knowledge base that distills key results reported in the literature.
arxiv  

Focal cortical dysplasia as a cause of epilepsy: the current evidence of associated genes and future therapeutic treatments [PDF]

arXiv, 2022
Focal cortical dysplasias (FCDs) are the most common cause of treatment resistant epilepsy affecting the pediatric population. Most individuals with FCD have seizure onset during the first five years of life and the majority will have seizures by the age of sixteen.
arxiv