Driver mutations
Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine
... of mutations or mutated genes, it would be ideal to test all possible combinations for recurrent mutations across a cohort of cancer pa- tients, but such a de novo approach is ...between driver muta- ...
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Prevalence of driver mutations in non-small-cell lung cancers in the People’s Republic of China
... EGFR mutations ranges from ...rare mutations (in KRAS, ROS1, PIK3CA, BRAF, RET, or HER2) should be ...new driver mutations remain to be ...
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Comprehensive investigation of oncogenic driver mutations in Chinese non-small cell lung cancer patients
... domain mutations, KRAS mutations, HER2 kinase domain mutations, BRAF mutations, ALK fusions, ROS1 fusions, RET fusions and AKT1 ...domain mutations (including 361 exon 19 deletions, 402 ...
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Analysis of the frequency of oncogenic driver mutations and correlation with clinicopathological characteristics in patients with lung adenocarcinoma from Northeastern Switzerland
... EGFR mutations and ALK rear- rangements in patients with stage IV or relapsed non-squamous NSCLC (including adenocarcinoma, large cell carcinoma and NOS histology) from 2008 to ...EGFR mutations ...
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Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations
... T-ALL driver mutations including the ...function mutations in the X-linked tumor suppressor genes MED12 (frameshit mutation ...candidate driver events were identified among immature T-ALL ...
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A rare coincidence of different types of driver mutations among uterine leiomyomas (UL)
... mutations or occur independently [3]. In our recent study on the in vitro proliferation of UL cells the vitro “long term survivors” did not show one of these abnormalities [14]. It seems reasonable to assume that, ...
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The search for cis -regulatory driver mutations in cancer genomes
... other mutations in the genome, in a similar way to SNP interactions in germline ...DPH3-proximal mutations and the TERT promoter mutations significantly co-occur with NF1 and BRAF mutations, ...
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Second-line combination therapies in nonsmall cell lung cancer without known driver mutations
... Single-agent chemotherapy remains the most validated standard option in the second-line setting for NSCLC patients without any known driver mutations. Although combination chemotherapy treatment does not ...
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OncodriveFML: a general framework to identify coding and non coding regions with cancer driver mutations
... detects driver non-coding elements One of the most interesting features of OncodriveFML is its applicability to the detection of driver non-coding genomic ...putative driver promoter, 5′ UTR, splice ...
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Combination therapy with vemurafenib (PLX4032/RG7204) and metformin in melanoma cell lines with distinct driver mutations
... The description of a molecular linkage between the MAPK and the LKB1-AMPK pathway in BRAF V600E mutant cells suggested that cells with this mutation may escape metabolic stress-induced checkpoints [10]. A cor- ollary ...
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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance
... NRAS mutations are mutually exclusive due to the growth disadvantage of double mutated cells [8], we analyzed the proliferation rate of double-mutated cells in vitro, compared to single mutated control cell ...
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<em>ALK</em>-rearrangement neuroendocrine carcinoma of the lung: a comprehensive study of a rare case series and review of literature
... Abstract: Driver mutations involving tyrosine kinase receptors play crucial roles in the oncogenesis of lung ...kinase mutations are extremely rare events in primary pulmonary neuroendocrine ...
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Mut2Vec: distributed representation of cancerous mutations
... of mutations for the characterization of cancer ...of driver mutations and distinguishes driver mutations from passenger muta- tions, it has the potential to improve performance in ...
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Genomic complexity and dynamics of clonal evolution in childhood acute myeloid leukemia studied with whole-exome sequencing
... new mutations providing genetic diversity within a cell ...new mutations and micro-environmental conditions, such as resource limitations and ...relapse-specific mutations strongly supports a ...
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Proportion and clinical features of never-smokers with non-small cell lung cancer
... Results: Of the 1860 NSCLC patients, 707 (38.0%) were never‑smokers. The proportions of women (83.7% vs. 5.6%) and adenocarcinoma (89.8% vs. 44.9%) were higher among never‑smokers than among ever‑smokers. Significantly ...
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The non-small cell lung cancer EGFR extracellular domain mutation, M277E, is oncogenic and drug-sensitive
... oncogenic driver mutations performed on a large prospective series of non-small cell lung cancer (NSCLC) specimens collected from patients who received surgical ...
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Pharmacogenomic analysis of patient derived tumor cells in gynecologic cancers
... All mutations with an allele frequency of > 5% and depth of > 20 reads are ...cancer-driver mutations exclusively in tissue (black, left axis), PDC (blue, right axis), or shared between the two ...
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Isocitrate dehydrogenases in physiology and cancer: biochemical and molecular insight
... ing mutations are early ones in certain tumors and late in ...follows: mutations can occur by chance in dividing cells due to replication errors or none dividing ones by several mechanisms including the ...
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Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer
... some driver alterations, but needs more drivers to become an invasive disease (Figure ...some driver mutations provides rationale for careful clinical management of pure ...
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Recognizing Paradigm Instability in Theories of Carcinogenesis
... no driver genes as well? Dating back to the 1960’s and 1970’s, another type of experiment illustrating carcinogenesis with no apparent driver mutations involves the study of tumorgenesis after the ...
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