FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2086177260> ?p ?o ?g. }

• W2086177260 abstract "Acute myeloid leukemia (AML), which is the most common acute leukemia in adults, is a particularly devastating disease that is universally fatal without therapy and has the longest hospital length of stay of any cancer. In addition there are a number of familial diseases described that have as a feature an increased susceptibility to AML. Examples of this are MDS/AML associated with germline mutations in the gene encoding the transcription factor GATA2, the ribosomopathies such as Diamond Blackfan Anemia, and Fanconi Anemia (FA) which is caused by bi-allelic mutations in any of the genes in FA complementation groups. Interestingly genes associated with predisposition to hematological malignancy, such as CEBPA, RUNX1 and GATA2 have also been described as targets of somatic mutation in AML. The application of next-generation whole-genome and whole-exome sequencing is greatly facilitating the dissection of the pathways altered during AML development. The discovery of new classes of mutations is increasing knowledge of the leukemogenesis process, improving disease classification and providing potential therapeutic targets. We have performed whole exome capture and next generation sequencing (NGS) of a series of 96 diagnostic AML samples. Analysis of the NGS data and comparison with genotyping performed using traditional methods, and a custom-designed Sequenom mutation panel, has confirmed the sensitivity and specificity of the NGS approach. Novel variants have been grouped into gene networks using a number of approaches, including pathway analysis, protein interaction databases, and known functional relationships. We have identified novel variants in a number of cancer susceptibility genes, and in particular we are characterising potential pathogenic mutations in a network of genes involved in the pathogenesis of Fanconi Anemia. Given that FA patients have a greatly increased predisposition to AML (at least 600-fold), we are performing functional assays to determine the significance for AML of somatic and germline variants in this network. Data will also be presented describing the clinical characteristics, mutation profile, gene expression signatures, and treatment outcomes for patients with mutations in this network. Citation Format: Anna L. Brown, James X. Gray, Paul Leo, Maung Kway Zeya, Mahmoud Bassal, Grant Engler, Sarah Bray, Brooke Gardiner, Mhairi Marshall, Ing Soo Tiong, Nik Cummings, Andrew Wei, Bik To, Ian Lewis, Alan D9Andrea, Thomas Gonda, Richard D9Andrea. Somatic mutation of cancer susceptibility genes in acute myeloid leukemia. [abstract]. In: Proceedings of the AACR Special Conference: Cancer Susceptibility and Cancer Susceptibility Syndromes; Jan 29-Feb 1, 2014; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(23 Suppl):Abstract nr 23. doi:10.1158/1538-7445.CANSUSC14-23" @default.
• W2086177260 created "2016-06-24" @default.
• W2086177260 creator A5005591514 @default.
• W2086177260 creator A5012187421 @default.
• W2086177260 creator A5013794950 @default.
• W2086177260 creator A5015721532 @default.
• W2086177260 creator A5016976459 @default.
• W2086177260 creator A5026147854 @default.
• W2086177260 creator A5032806596 @default.
• W2086177260 creator A5033290363 @default.
• W2086177260 creator A5040177912 @default.
• W2086177260 creator A5044648110 @default.
• W2086177260 creator A5046086950 @default.
• W2086177260 creator A5047605679 @default.
• W2086177260 creator A5063253744 @default.
• W2086177260 creator A5065659431 @default.
• W2086177260 creator A5069611762 @default.
• W2086177260 creator A5076782260 @default.
• W2086177260 creator A5080144419 @default.
• W2086177260 date "2014-12-01" @default.
• W2086177260 modified "2023-09-27" @default.
• W2086177260 title "Abstract 23: Somatic mutation of cancer susceptibility genes in acute myeloid leukemia" @default.
• W2086177260 doi "https://doi.org/10.1158/1538-7445.cansusc14-23" @default.
• W2086177260 hasPublicationYear "2014" @default.
• W2086177260 type Work @default.
• W2086177260 sameAs 2086177260 @default.
• W2086177260 citedByCount "0" @default.
• W2086177260 crossrefType "proceedings-article" @default.
• W2086177260 hasAuthorship W2086177260A5005591514 @default.
• W2086177260 hasAuthorship W2086177260A5012187421 @default.
• W2086177260 hasAuthorship W2086177260A5013794950 @default.
• W2086177260 hasAuthorship W2086177260A5015721532 @default.
• W2086177260 hasAuthorship W2086177260A5016976459 @default.
• W2086177260 hasAuthorship W2086177260A5026147854 @default.
• W2086177260 hasAuthorship W2086177260A5032806596 @default.
• W2086177260 hasAuthorship W2086177260A5033290363 @default.
• W2086177260 hasAuthorship W2086177260A5040177912 @default.
• W2086177260 hasAuthorship W2086177260A5044648110 @default.
• W2086177260 hasAuthorship W2086177260A5046086950 @default.
• W2086177260 hasAuthorship W2086177260A5047605679 @default.
• W2086177260 hasAuthorship W2086177260A5063253744 @default.
• W2086177260 hasAuthorship W2086177260A5065659431 @default.
• W2086177260 hasAuthorship W2086177260A5069611762 @default.
• W2086177260 hasAuthorship W2086177260A5076782260 @default.
• W2086177260 hasAuthorship W2086177260A5080144419 @default.
• W2086177260 hasConcept C104317684 @default.
• W2086177260 hasConcept C10590036 @default.
• W2086177260 hasConcept C121608353 @default.
• W2086177260 hasConcept C134935766 @default.
• W2086177260 hasConcept C13514818 @default.
• W2086177260 hasConcept C16671776 @default.
• W2086177260 hasConcept C2776863199 @default.
• W2086177260 hasConcept C2778124228 @default.
• W2086177260 hasConcept C2778461978 @default.
• W2086177260 hasConcept C2778729363 @default.
• W2086177260 hasConcept C45091340 @default.
• W2086177260 hasConcept C501734568 @default.
• W2086177260 hasConcept C502942594 @default.
• W2086177260 hasConcept C54355233 @default.
• W2086177260 hasConcept C71924100 @default.
• W2086177260 hasConcept C86803240 @default.
• W2086177260 hasConceptScore W2086177260C104317684 @default.
• W2086177260 hasConceptScore W2086177260C10590036 @default.
• W2086177260 hasConceptScore W2086177260C121608353 @default.
• W2086177260 hasConceptScore W2086177260C134935766 @default.
• W2086177260 hasConceptScore W2086177260C13514818 @default.
• W2086177260 hasConceptScore W2086177260C16671776 @default.
• W2086177260 hasConceptScore W2086177260C2776863199 @default.
• W2086177260 hasConceptScore W2086177260C2778124228 @default.
• W2086177260 hasConceptScore W2086177260C2778461978 @default.
• W2086177260 hasConceptScore W2086177260C2778729363 @default.
• W2086177260 hasConceptScore W2086177260C45091340 @default.
• W2086177260 hasConceptScore W2086177260C501734568 @default.
• W2086177260 hasConceptScore W2086177260C502942594 @default.
• W2086177260 hasConceptScore W2086177260C54355233 @default.
• W2086177260 hasConceptScore W2086177260C71924100 @default.
• W2086177260 hasConceptScore W2086177260C86803240 @default.
• W2086177260 hasLocation W20861772601 @default.
• W2086177260 hasOpenAccess W2086177260 @default.
• W2086177260 hasPrimaryLocation W20861772601 @default.
• W2086177260 hasRelatedWork W1255676896 @default.
• W2086177260 hasRelatedWork W1529785358 @default.
• W2086177260 hasRelatedWork W1993250866 @default.
• W2086177260 hasRelatedWork W2045083799 @default.
• W2086177260 hasRelatedWork W2167134612 @default.
• W2086177260 hasRelatedWork W2345088861 @default.
• W2086177260 hasRelatedWork W2396290019 @default.
• W2086177260 hasRelatedWork W2544080746 @default.
• W2086177260 hasRelatedWork W2560450554 @default.
• W2086177260 hasRelatedWork W2581660450 @default.
• W2086177260 hasRelatedWork W2592248045 @default.
• W2086177260 hasRelatedWork W2804715976 @default.
• W2086177260 hasRelatedWork W2896973056 @default.
• W2086177260 hasRelatedWork W2920836183 @default.
• W2086177260 hasRelatedWork W2923812358 @default.
• W2086177260 hasRelatedWork W2924450706 @default.
• W2086177260 hasRelatedWork W2950100209 @default.
• W2086177260 hasRelatedWork W2971655176 @default.
• W2086177260 hasRelatedWork W3036160040 @default.
• W2086177260 hasRelatedWork W3093482548 @default.

• next