[PDF] Top 20 Tumor mutation burden: from comprehensive mutational screening to the clinic
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Tumor mutation burden: from comprehensive mutational screening to the clinic
... Another major obstacle to make TMB assessment clini- cally meaningful is the lack of a widely approved cut-off score (and an associated NGS panel) which must be set to successfully establish TMB as a predictive ... See full document
10
Tumor mutational burden quantification from targeted gene panels: major advancements and challenges
... estimates from targeted enrichment sequencing, using various gene panels (Table 1, Additional file 1: Table ...global mutational burden from the narrow sequencing space targeted by a gene ... See full document
13
Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?
... regarding mutational analysis in large populations in the context of clinical outcome and response to therapies will assemble a more robust understanding of cancer genomics and systems biology that can elucidate ... See full document
8
Hepatitis C in Lebanon: the burden of the disease and the value of comprehensive screening and treatment
... treatment strategy. All model parameters were varied within ± 20% ranges subject to plausibility check (ie, the transition probabilities could not be < 0 or > 1). The distribution of fibrosis stages was varied ... See full document
13
Biomarkers of immunotherapy in urothelial and renal cell carcinoma: PD-L1, tumor mutational burden, and beyond
... Immunotherapy CPI combinations have proven effective in melanoma, and CheckMate-214 was the first in mRCC to use combination of CTLA-4 and PD-1 inhibitors. CHECKMATE 214 was a phase III trial which randomized 1040 ... See full document
10
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
... the mutation C681X that creates a stop codon and the production of a truncated protein or a protein partially ...C681X mutation in 21% of our ...the mutation C681X as producing a shortened receptor ... See full document
8
Prediction of tumor mutation burden in breast cancer based on the expression of ER, PR, HER-2, and Ki-67
... time from the date of surgery to the date of first relapse, second primary malignancy, or death resulting from any ...derived from a Kaplan–Meier estimate, and the differences between the survival ... See full document
7
Significance and implications of FDA approval of pembrolizumab for biomarker-defined disease
... guidelines from the National Comprehensive Cancer Network (NCCN) and the American Society of Clinical Oncology (ASCO) rec- ommend that all patients with CRC be tested for MSI-H/ dMMR biomarker status [36, ... See full document
7
Extraskeletal myxoid chondrosarcoma with massive pulmonary metastases
... benefit from sunitinib has been observed in 8 out of 10 patients with the EWSR1–NR4A3 translocation (6 PRs); elevated expression and activation of RET, a known tar- get of sunitinib, was noted in this study ... See full document
6
Targeted DNA and RNA sequencing of fine-needle biopsy FFPE specimens in patients with unresectable hepatocellular carcinoma treated with sorafenib
... In the RNA sequencing experiment, the expressions of approximately 50 genes were successfully measured and analyzed in all the biopsy samples, suggesting that FFPE biopsy samples of HCC are suitable for RNA sequencing. ... See full document
9
Epigenetic alterations are associated with tumor mutation burden in non-small cell lung cancer
... probes from the 850 k chip related to these 437 genes, and the results show that they are significantly different in the high TMB ...probes from 450 k chips in the TCGA database, and the results (Additional ... See full document
11
Targeted sequencing identifies the mutational signature of double primary and metastatic malignancies: a case report
... kidney tumor sample with thyroid transcription factor 1 (TTF-1) and cytokeratin 7 (CK-7) antibodies did not support pulmonary origin (Table 1, Add- itional file 1: Figure ...the tumor in the kidney being ... See full document
7
Persistent mutant oncogene specific T cells in two patients benefitting from anti-PD-1
... to mutation-associated ...extracted from tumor tissue obtained from the primary surgical resection and serial peripheral blood samples where ... See full document
8
Simultaneous Estimation of Additive and Mutational Genetic Variance in an Outbred Population of Drosophila serrata
... allowing mutational variance to be esti- mated within the more natural context of an outbred po- ...the mutational and additive genetic numerator relationship matrices in these models, it is possible to ... See full document
18
Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing
... protein Atrx which contains a helicase/ATPase domain at the C terminus. As a member of the SNF2 (SWI/SNF) family of chromatin-associated proteins [27], ATRX in- teracts with death-domain associated protein (DAXX) and ... See full document
6
Relationship between Tumor Enhancement, Edema, IDH1 Mutational Status, MGMT Promoter Methylation, and Survival in Glioblastoma
... of tumor with high blood volume and/or low apparent diffusion coefficient ex- press gene profiles associated with angiogenesis and tumor ...IDH1 mutation and MGMT promoter methylation status de- fine ... See full document
7
Molecular classification of tissue from a transformed non-Hogkin’s lymphoma case with unexpected long-time remission
... suffered from severe toxicity but recovered during the following 6 months’ remission until biopsy‑verified ...analysis, mutation screening and copy number variations of the primary and relapsed ... See full document
10
Immune activation and response to pembrolizumab in POLE mutant endometrial cancer
... died from this disease at age 54 years, and a maternal aunt who was diagnosed with colon cancer at age 54 years and lymphoma, type unknown, a few years ...performing screening tests to determine the eli- ... See full document
8
Comprehensive Mutation Screening in a Cystic Fibrosis Center
... How well does our present method compare with DGGE? In our small sample of participants with positive sweat tests, we detected 69% of mutations that were not included in the Genzyme 70 mutation test. At first ... See full document
9
Implementing TMB measurement in clinical practice: considerations on assay requirements
... immunotherapy. Comprehensive characterisation of tumours using genomic, transcriptomic, and proteomic approaches continues to lead the way in advancing precision ...tumour mutational burden (TMB) as ... See full document
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