Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Serum cell-free DNA methylation of OPCML and HOXD9 as a biomarker that may aid in differential diagnosis between cholangiocarcinoma and other biliary diseases

(2019) Wiphawan Wasenang et al.   Clinical Epigenetics

Cancer Cells Tune the Signaling Pathways to Empower de Novo Synthesis of Nucleotides

(2019) Elodie Villa et al.   Cancers

Biological Role and Therapeutic Potential of IDH Mutations in Cancer

(2018) Matthew S. Waitkus et al.   CANCER CELL

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

MetaboAnalyst 4.0: towards more transparent and integrative metabolomics analysis

(2018) Jasmine Chong et al.   NUCLEIC ACIDS RESEARCH

Isocitrate dehydrogenase 1 mutation sensitizes intrahepatic cholangiocarcinoma to the BET inhibitor JQ1

(2018) Hiroaki Fujiwara et al.   CANCER SCIENCE

Orotate phosphoribosyltransferase as a predictor of benefit from S-1 adjuvant chemotherapy for cholangiocarcinoma patients

(2018) Keiichi Akahoshi et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib

(2018) Eytan M. Stein et al.   BLOOD

Intrahepatic cholangiocarcinoma frequently shows loss of BAP1 and PBRM1 expression, and demonstrates specific clinicopathological and genetic characteristics with BAP1 loss

(2017) Kento Misumi et al.   HISTOPATHOLOGY

Autophagy-Dependent Generation of Free Fatty Acids Is Critical for Normal Neutrophil Differentiation

(2017) Thomas Riffelmacher et al.   IMMUNITY

ACTR-46. AG-120, A FIRST-IN-class MUTANT IDH1 INHIBITOR IN PATIENTS WITH RECURRENT OR PROGRESSIVE IDH1 MUTANT GLIOMA: UPDATED RESULTS FROM THE PHASE 1 NON-ENHANCING GLIOMA POPULATION

(2017) Ingo K Mellinghoff et al.   NEURO-ONCOLOGY

2-Hydroxyglutarate produced by neomorphic IDH mutations suppresses homologous recombination and induces PARP inhibitor sensitivity

(2017) Parker L. Sulkowski et al.   Science Translational Medicine

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

(2017) Angela Hamblin et al.   PLOS MEDICINE

Screening for circulating RAS/RAF mutations by multiplex digital PCR

(2016) Rikke Fredslund Andersen et al.   CLINICA CHIMICA ACTA

The SWISS-MODEL Repository—new features and functionality

(2016) Stefan Bienert et al.   NUCLEIC ACIDS RESEARCH

Structure and Functional Characterization of Human Aspartate Transcarbamoylase, the Target of the Anti-tumoral Drug PALA

(2016) Alba Ruiz-Ramos et al.   STRUCTURE

Isocitrate Dehydrogenase Mutations Confer Dasatinib Hypersensitivity and SRC Dependence in Intrahepatic Cholangiocarcinoma

(2016) S. K. Saha et al.   Cancer Discovery

Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations

(2016) Young-Ho Kim et al.   Oncotarget

Targeting One Carbon Metabolism with an Antimetabolite Disrupts Pyrimidine Homeostasis and Induces Nucleotide Overflow

(2016) Zheng Ser et al.   Cell Reports

Unresectable intrahepatic cholangiocarcinoma: Systemic plus hepatic arterial infusion chemotherapy is associated with longer survival in comparison with systemic chemotherapy alone

(2015) Ioannis T. Konstantinidis et al.   CANCER

Extreme Vulnerability of IDH1 Mutant Cancers to NAD+ Depletion

(2015) Kensuke Tateishi et al.   CANCER CELL

Noninvasive Quantification of 2-Hydroxyglutarate in Human Gliomas with IDH1 and IDH2 Mutations

(2015) U. E. Emir et al.   CANCER RESEARCH

Genome wide DNA copy number analysis in cholangiocarcinoma using high resolution molecular inversion probe single nucleotide polymorphism assay

(2015) Alexander Arnold et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Diagnostic Value of Plasma and Urinary 2-Hydroxyglutarate to Identify Patients With Isocitrate Dehydrogenase-Mutated Glioma

(2015) G. Lombardi et al.   ONCOLOGIST

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis

(2015) Sergio de Cima et al.   Scientific Reports

Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

(2014) Rondell P. Graham et al.   HUMAN PATHOLOGY

Gemcitabine and oxaliplatin with or without cetuximab in advanced biliary-tract cancer (BINGO): a randomised, open-label, non-comparative phase 2 trial

(2014) David Malka et al.   LANCET ONCOLOGY

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

New Routes to Targeted Therapy of Intrahepatic Cholangiocarcinomas Revealed by Next-Generation Sequencing

(2014) J. S. Ross et al.   ONCOLOGIST

Impact of 5-fluorouracil metabolizing enzymes on chemotherapy in patients with resectable colorectal cancer

(2014) TAKUMI OCHIAI et al.   ONCOLOGY REPORTS

Non-enzymatic chemistry enables 2-hydroxyglutarate-mediated activation of 2-oxoglutarate oxygenases

(2014) Hanna Tarhonskaya et al.   Nature Communications

Mutational landscape of intrahepatic cholangiocarcinoma

(2014) Shanshan Zou et al.   Nature Communications

Improved workflows for high throughput library preparation using the transposome-based nextera system

(2013) Sarah Lamble et al.   BMC BIOTECHNOLOGY

Integrative Molecular Analysis of Intrahepatic Cholangiocarcinoma Reveals 2 Classes That Have Different Outcomes

(2013) Daniela Sia et al.   GASTROENTEROLOGY

Fibroblast growth factor receptor 2 tyrosine kinase fusions define a unique molecular subtype of cholangiocarcinoma

(2013) Yasuhito Arai et al.   HEPATOLOGY

Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions

(2013) Jesse S. Voss et al.   HUMAN PATHOLOGY

Metabolomics Identifies Pyrimidine Starvation as the Mechanism of 5-Aminoimidazole-4-Carboxamide-1- -Riboside-Induced Apoptosis in Multiple Myeloma Cells

(2013) C. Bardeleben et al.   MOLECULAR CANCER THERAPEUTICS

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Influence of Plasma Processing on Recovery and Analysis of Circulating Nucleic Acids

(2013) Karen Page et al.   PLoS One

Structure, Functional Characterization, and Evolution of the Dihydroorotase Domain of Human CAD

(2013) Araceli Grande-García et al.   STRUCTURE

Progress in Ion Torrent semiconductor chip based sequencing

(2012) Barry Merriman et al.   ELECTROPHORESIS

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

(2012) J. Rainger et al.   HUMAN MOLECULAR GENETICS

Type and location of isocitrate dehydrogenase mutations influence clinical characteristics and disease outcome of acute myeloid leukemia

(2012) Magdalena Koszarska et al.   LEUKEMIA & LYMPHOMA

Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases

(2011) Wei Xu et al.   CANCER CELL

The meaning of p16ink4aexpression in tumors

(2011) Agnieszka K. Witkiewicz et al.   CELL CYCLE

Gemcitabine and oxaliplatin with or without erlotinib in advanced biliary-tract cancer: a multicentre, open-label, randomised, phase 3 study

(2011) Jeeyun Lee et al.   LANCET ONCOLOGY

Frequent Mutation of Isocitrate Dehydrogenase (IDH)1 and IDH2 in Cholangiocarcinoma Identified Through Broad-Based Tumor Genotyping

(2011) D. R. Borger et al.   ONCOLOGIST

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Prognostic Impact of Isocitrate Dehydrogenase Enzyme Isoforms 1 and 2 Mutations in Acute Myeloid Leukemia: A Study by the Acute Leukemia French Association Group

(2010) Nicolas Boissel et al.   JOURNAL OF CLINICAL ONCOLOGY

USP32 is an active, membrane-bound ubiquitin protease overexpressed in breast cancers

(2010) Shiva Akhavantabasi et al.   MAMMALIAN GENOME

Cisplatin plus Gemcitabine versus Gemcitabine for Biliary Tract Cancer

(2010) Juan Valle et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Structures of Human Dihydroorotate Dehydrogenase with and without Inhibitor Reveal Conformational Flexibility in the Inhibitor and Substrate Binding Sites†

(2008) Björn Walse et al.   BIOCHEMISTRY

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

(2008) D. W. Parsons et al.   SCIENCE