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Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays
Rare tumor-specific mutations in patient samples serve as excellent markers to monitor the course of malignant disease and responses to therapy in...
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Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas
Glioblastomas are the most common IDH-wildtype adult high-grade gliomas, frequently harboring mutations in the TERT gene promoter ( pTERT ) and...
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A cross-sectional study of clinical, dermoscopic, histopathological, and molecular patterns of scalp melanoma in patients with or without androgenetic alopecia
Scalp melanoma (SM) has a worse prognosis than melanoma in other locations likely because of late diagnosis due to hair coverage, difficulties in...
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Comprehensive Metabolomic Analysis of IDH1R132H Clinical Glioma Samples Reveals Suppression of β-oxidation Due to Carnitine Deficiency
Gliomas with Isocitrate dehydrogenase 1 ( IDH1 ) mutation have alterations in several enzyme activities, resulting in various metabolic changes. The...
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Mutational landscape of cancer-driver genes across human cancers
The genetic mutations that contribute to the transformation of healthy cells into cancerous cells have been the subject of extensive research. The...
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Phase and context shape the function of composite oncogenic mutations
Cancers develop as a result of driver mutations
1 ,2 that lead to clonal outgrowth and the evolution of disease3 ,4 . The discovery and functional...
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Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing
Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported...
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Wild-type IDH2 is a therapeutic target for triple-negative breast cancer
Mutations in isocitrate dehydrogenases (IDH) are oncogenic events due to the generation of oncogenic metabolite 2-hydroxyglutarate. However, the role...
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TET2 lesions enhance the aggressiveness of CEBPA-mutant acute myeloid leukemia by rebalancing GATA2 expression
The myeloid transcription factor CEBPA is recurrently biallelically mutated (i.e., double mutated; CEBPA DM ) in acute myeloid leukemia (AML) with a...
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Age influences on the molecular presentation of tumours
Cancer is often called a disease of aging. There are numerous ways in which cancer epidemiology and behaviour change with the age of the patient. The...
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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy
Limited studies have interrogated the genomic landscape of Chinese melanoma in which acral and mucosal melanoma are the mainstay. In this study, we...
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Visualizing genomic characteristics across an RNA-Seq based reference landscape of normal and neoplastic brain
In order to better understand the relationship between normal and neoplastic brain, we combined five publicly available large-scale datasets,...
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Landscape and function of multiple mutations within individual oncogenes
Sporadic reports have described cancer cases in which multiple driver mutations (MMs) occur in the same oncogene
1 ,2 . However, the overall landscape...
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Joint inference of exclusivity patterns and recurrent trajectories from tumor mutation trees
Cancer progression is an evolutionary process shaped by both deterministic and stochastic forces. Multi-region and single-cell sequencing of tumors...
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Prediction of Molecular Mutations in Diffuse Low-Grade Gliomas using MR Imaging Features
Diffuse low-grade gliomas (LGG) have been reclassified based on molecular mutations, which require invasive tumor tissue sampling. Tissue sampling by...
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Clinical and NGS predictors of response to regorafenib in recurrent glioblastoma
Predictive factors for response to regorafenib in recurrent glioblastoma, IDH- wildtype, are scarcely recognized. The objective of this study was to...
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Antitumour activity of neratinib in patients with HER2-mutant advanced biliary tract cancers
HER2 mutations are infrequent genomic events in biliary tract cancers (BTCs). Neratinib, an irreversible, pan-HER, oral tyrosine kinase inhibitor,...
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A genetic development route analysis on MDS subset carrying initial epigenetic gene mutations
MDS development is a dynamic process during which the accumulation of somatic mutations leads to specific malignant evolution. To elucidate the...
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Differential prognostic values of the three AKT isoforms in acute myeloid leukemia
The PI3K-AKT-mTOR pathway lies at the confluence of signaling pathways in which various components are subjected to activating genetic alterations in...
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Convergent somatic evolution commences in utero in a germline ribosomopathy
Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in human disease. Here, we perform whole genome sequencing of...
