Results 41 to 50 of about 277,677 (243)

Massive NGS data analysis reveals hundreds of potential novel gene fusions in human cell lines [PDF]

, 2018
Background: Gene fusions derive from chromosomal rearrangements and the resulting chimeric transcripts are often endowed with oncogenic potential. Furthermore, they serve as diagnostic tools for the clinical classification of cancer subgroups with ...
Bolis, Marco, Castrignanò, Tiziana, Chillemi, Giovanni, Flati, Tiziano, Fratelli, Maddalena, Garattini, Enrico, Gioiosa, Silvia, Massini, Annalisa   +7 more
core   +1 more source

Systemic circulating microRNA landscape in Lynch syndrome

International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023
What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen, Tia‐Marje Korhonen, Tiina Jokela, Maarit Ahtiainen, Laura Lahtinen, Teijo Kuopio, Anna Lepistö, Elina Sillanpää, Jukka‐Pekka Mecklin, Toni T. Seppälä, Eija K. Laakkonen   +10 more
wiley   +1 more source

Deriving a mutation index of carcinogenicity using protein structure and protein interfaces [PDF]

, 2014
With the advent of Next Generation Sequencing the identification of mutations in the genomes of healthy and diseased tissues has become commonplace.
A Custodio, A David, A Dixit, A Hamosh, A Pal, AJ Bass, Anna Tramontano, B Reva, B Vogelstein, CJ Richardson, CM Croce, D Chasman, D Sims, D Talavera, D Xu, E Krissinel, EC Chao, ER Mardis, F Damm, Frances Pearl, G Birrane, G De Baets, H Boutselakis, H Carter, H Makishima, IA Adzhubei, IS Moreira, J Carlsson, Jarle Hakas, JM Hurst, JM Izarzugaza, JR Morris, K Wang, Konstantinos Mitsopoulos, L Breiman, L Ding, M Li, M Magrane, Marketa Zvelebil, MR Stratton, MR Stratton, MS Greenblatt, MW MacArthur, MY Frederic, Octavio Espinosa, P Flicek, P Kumar, P Srivastava, PA Chan, PA Futreal, PB Crowley, PC Ng, PC Ng, PD Stenson, PH Lee, PT Wan, PV Hornbeck, PY Chou, R Ferla, R Rajasekaran, RJ Kinsella, S Jones, S Sunyaev, S Velankar, SA Forbes, TM Anne, V Ramensky, W Huang da, W Kabsch, X Wang, X Wang, Y Bromberg   +71 more
core   +4 more sources

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients

BMC Cancer, 2019
Background Significant numbers of variants detected in cancer patients are often left labeled only as variants of unknown significance (VUS). In order to expand precision medicine to a wider population, we need to extend our knowledge of pathogenicity ...
Takahiko Koyama, Kahn Rhrissorrakrai, Laxmi Parida   +2 more
doaj   +1 more source

MoKCa database - mutations of kinases in cancer [PDF]

, 2009
Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database ...
Alfarano, Altschul, Berman, Braconi Quintaje, Bruford, Burnworth, Chatr-aryamontri, Christopher J. Richardson, Clifford, Costas Mitsopoulous, Daley, Diella, Fernández, Finn, Flicek, Forbes, Frances M. G. Pearl, Gene Ontology Consortium, Greenman, Greenman, Hanahan, Hulo, Kaminker, Kaminker, Kerrien, Koorstra, Lappalainen, Laurence H. Pearl, Letunic, Manning, Marketa Zvelebil, Mishra, Ng, O'Brien, Ortutay, Pagel, Pearl, Qiong Gao, Sawyers, Sjöblom, Stark, Torkamani, UniProt Consortium, Vastrik, Velankar, Wheeler, Wood, Yeats   +47 more
core   +3 more sources

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

BMC Bioinformatics, 2018
Background Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice.
Marcos Díaz-Gay, Maria Vila-Casadesús, Sebastià Franch-Expósito, Eva Hernández-Illán, Juan José Lozano, Sergi Castellví-Bel   +5 more
doaj   +1 more source

CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia

Platelets, 2022
Essential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene.
Nora El Jahrani, Gabriel Cretin, Alexandre G. de Brevern   +2 more
doaj   +1 more source

Molecular landscape of prostate cancer: implications for current clinical trials. [PDF]

, 2015
Castration-resistant prostate cancer (CRPC) is a lethal disease, and improvement with androgen-deprivation therapy has plateaued. Next-generation sequencing studies have led to significant advances in our understanding of genomic alterations in prostate ...
Ikeda, Sadakatsu, Khemlina, Galina, Kurzrock, Razelle   +2 more
core   +1 more source

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS, Kalatskaya, Irina, McPherson, John D, Spears, Melanie, Stein, Lincoln, Trinh, Quang M   +5 more
core   +1 more source

Prominent features of the amino acid mutation landscape in cancer. [PDF]

PLoS ONE, 2017
Cancer can be viewed as a set of different diseases with distinctions based on tissue origin, driver mutations, and genetic signatures. Accordingly, each of these distinctions have been used to classify cancer subtypes and to reveal common features. Here,
Zachary A Szpiech, Nicolas B Strauli, Katharine A White, Diego Garrido Ruiz, Matthew P Jacobson, Diane L Barber, Ryan D Hernandez   +6 more
doaj   +1 more source