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Nature Genetics, ISSN 1061-4036, 12/2012, Volume 44, Issue 12, pp. 1310 - 1315
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 506, Issue 7488, pp. 371 - 375
Cervical cancer is responsible for 10-15% of cancer-related deaths in women worldwide(1,2). The aetiological role of infection with high-risk human papilloma... 
DOMAIN | CATALOG | FUSION | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | HUMAN-PAPILLOMAVIRUS | SENSITIVE DETECTION | CANCER | EXPRESSION | SOMATIC MUTATIONS | DISCOVERY | F-Box-WD Repeat-Containing Protein 7 | Receptor, ErbB-2 - genetics | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - virology | Genomics | Humans | E1A-Associated p300 Protein - genetics | Core Binding Factor beta Subunit - genetics | Case-Control Studies | Papillomaviridae - genetics | Tumor Suppressor Protein p53 - genetics | DNA Mutational Analysis | Mitogen-Activated Protein Kinase 1 - genetics | Cell Cycle Proteins - genetics | Female | NF-E2-Related Factor 2 - genetics | Adenocarcinoma - genetics | Papillomaviridae - physiology | HLA-B Antigens - genetics | Gene Expression Regulation, Neoplastic - genetics | Proto-Oncogene Proteins c-ets | Virus Integration - genetics | Proto-Oncogene Proteins - genetics | DNA Copy Number Variations - genetics | Transcriptome - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Uterine Cervical Neoplasms - genetics | Adenocarcinoma - virology | Genome, Human - genetics | Papillomavirus Infections - genetics | Exome - genetics | Uterine Cervical Neoplasms - virology | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Prevention | Gene mutations | Oncology, Experimental | Exome sequencing | Genetic aspects | Research | Cervical cancer | Cancer | Human papillomavirus | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 597 - 611
Esophageal squamous cell carcinoma (ESCC) is one of the most common cancers worldwide and the fourth most lethal cancer in China. However, although genomic... 
POPULATION | DNA | SUSCEPTIBILITY | GENETICS & HEREDITY | ARCHITECTURE | WIDE ASSOCIATION | DIFFERENTIATION | IDENTIFICATION | SOMATIC MUTATIONS | HUMAN CANCER | BREAST | Immunohistochemistry | Carcinoma, Squamous Cell - genetics | Humans | Molecular Sequence Data | Immunoblotting | Gene Knockdown Techniques | CREB-Binding Protein - genetics | Polycomb Repressive Complex 1 - genetics | Tetrazolium Salts | APOBEC-1 Deaminase | Ligases | Base Sequence | China | Tumor Suppressor Proteins - genetics | Thiazoles | Patched Receptors | Real-Time Polymerase Chain Reaction | Esophageal Squamous Cell Carcinoma | Genetic Predisposition to Disease - genetics | Cytidine Deaminase - genetics | In Situ Hybridization, Fluorescence | DNA Copy Number Variations - genetics | Signal Transduction - genetics | Transcription Factors - genetics | Mutation - genetics | Ubiquitin Thiolesterase - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Analysis of Variance | Esophageal Neoplasms - genetics | Polycomb-Group Proteins - genetics | Cell Line, Tumor | LIM Domain Proteins - genetics | Ubiquitin-Protein Ligases - genetics | Patched-1 Receptor | Receptors, Cell Surface - genetics | Squamous cell carcinoma | Genetic aspects | Gene mutations | Identification and classification | Esophageal cancer
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1190 - 1198
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we... 
OCULAR MELANOMA | CELLS | COLORECTAL-CANCER | PROTEINS DLK1 | METASTASES | GENETICS & HEREDITY | RISK | EXPRESSION | RADIATION | SF3B1 | SOMATIC MUTATIONS | Melanoma - diagnosis | Exons | Humans | Middle Aged | Male | Phosphoproteins - metabolism | Case-Control Studies | RNA Splicing Factors - metabolism | DNA Copy Number Variations | Melanoma - genetics | Melanocytes - pathology | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Ubiquitin Thiolesterase - metabolism | Adult | Female | Membrane Proteins - metabolism | Eukaryotic Initiation Factor-1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Tumor Suppressor p53-Binding Protein 1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Uveal Neoplasms - genetics | Genome-Wide Association Study | Tumor Suppressor Proteins - metabolism | GTP-Binding Protein alpha Subunits - metabolism | Tumor Suppressor p53-Binding Protein 1 - genetics | Membrane Proteins - genetics | Eukaryotic Initiation Factor-1 - genetics | Ubiquitin-Protein Ligases - metabolism | GTP-Binding Protein alpha Subunits - genetics | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Ubiquitin Thiolesterase - genetics | Skin Neoplasms | Uveal Neoplasms - diagnosis | Aged | Mutation | Ubiquitin-Protein Ligases - genetics | Genetic aspects | Nucleotide sequencing | Methods | Melanoma | DNA sequencing | Report
Journal Article
Nature Communications, ISSN 2041-1723, 07/2015, Volume 6, Issue 1, p. 7557
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Here we studied 60 RMSs using whole-exome/-transcriptome sequencing, copy number... 
WIDE DNA METHYLATION | AMPLIFICATION | PIK3CA GENE | EMBRYONAL RHABDOMYOSARCOMA | PATHWAY MUTATIONS | ADOLESCENTS | MULTIDISCIPLINARY SCIENCES | PTEN | ALVEOLAR RHABDOMYOSARCOMA | HUMAN CANCER | BREAST | Paired Box Transcription Factors - genetics | F-Box-WD Repeat-Containing Protein 7 | ras Proteins - genetics | Prognosis | Rhabdomyosarcoma, Embryonal - classification | Humans | Transcriptome | Child, Preschool | PAX7 Transcription Factor - genetics | Infant | Male | Rhabdomyosarcoma, Alveolar - classification | RNA, Messenger - metabolism | Proto-Oncogene Proteins c-akt - genetics | Tumor Suppressor Protein p53 - genetics | Exome | Rhabdomyosarcoma, Embryonal - genetics | Young Adult | Cell Cycle Proteins - genetics | Female | Receptor, Fibroblast Growth Factor, Type 4 - genetics | Child | Gene Expression Regulation, Neoplastic - genetics | PTEN Phosphohydrolase - genetics | PAX3 Transcription Factor | Rhabdomyosarcoma, Alveolar - genetics | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | DNA Methylation - genetics | Forkhead Transcription Factors - genetics | beta Catenin - genetics | Epigenesis, Genetic - genetics | Adolescent | Rhabdomyosarcoma - classification | Forkhead Box Protein O1 | Rhabdomyosarcoma - genetics | Mutation | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 12/2013, Volume 31, Issue 34, pp. 4333 - 4342
Journal Article
Nature Medicine, ISSN 1078-8956, 06/2017, Volume 23, Issue 6, pp. 664 - 673
Neuroendocrine (NE) cancers are a diverse group of neoplasms typically diagnosed and treated on the basis of their site of origin. This Perspective focuses on... 
MOLECULAR CHARACTERIZATION | MEDICINE, RESEARCH & EXPERIMENTAL | PANCREATIC ENDOCRINE NEOPLASMS | TRANSGENIC MOUSE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ANTIANDROGEN RESISTANCE | CONDITIONAL MOUSE MODEL | AURORA KINASE | METASTATIC PROSTATE-CANCER | T-ANTIGEN | CELL BIOLOGY | CELL LUNG-CANCER | N-MYC | Lung Neoplasms - drug therapy | Colonic Neoplasms - genetics | Carcinoma, Small Cell - genetics | Colonic Neoplasms - drug therapy | Epigenesis, Genetic | Humans | Male | Antineoplastic Agents - therapeutic use | Molecular Targeted Therapy | Tumor Suppressor Protein p53 - genetics | Ovarian Neoplasms - genetics | Neoplasms, Glandular and Epithelial - genetics | Prostatic Neoplasms - genetics | Urinary Bladder Neoplasms - genetics | Female | Cell Differentiation | Retinoblastoma Binding Proteins - genetics | Ovarian Neoplasms - drug therapy | Prostatic Neoplasms - drug therapy | Triazoles - therapeutic use | Lung Neoplasms - genetics | Antibodies, Monoclonal, Humanized - therapeutic use | Carcinoma, Neuroendocrine - drug therapy | Carcinoma, Small Cell - drug therapy | Carcinogenesis - genetics | Head and Neck Neoplasms - drug therapy | Carcinoma, Neuroendocrine - genetics | Uterine Cervical Neoplasms - drug therapy | Urinary Bladder Neoplasms - drug therapy | Uterine Cervical Neoplasms - genetics | Disease Progression | Azepines - therapeutic use | Neuroendocrine Tumors - genetics | Proto-Oncogene Proteins c-met - genetics | Cell Lineage | Cell Plasticity - genetics | Esophageal Neoplasms - genetics | Pyrimidines - therapeutic use | Neuroendocrine Tumors - drug therapy | Head and Neck Neoplasms - genetics | Proto-Oncogene Proteins c-myc - genetics | Ubiquitin-Protein Ligases - genetics | Benzodiazepines - therapeutic use | Esophageal Neoplasms - drug therapy | Proteins | Research | Health aspects | Carcinogenesis | Gastrin
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 856 - 859
ObjectiveTo investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible... 
BREAST-CANCER | GENE | HIGH-RISK | GENETICS & HEREDITY | TUMOR-SUPPRESSOR | BRCA1 | UBIQUITIN HYDROLASE | BRCA1-ASSOCIATED PROTEIN-1 | Adenocarcinoma - pathology | Genetic Testing | Adenocarcinoma of Lung | Humans | Lung Neoplasms - metabolism | Middle Aged | Gene Expression Regulation, Neoplastic | Genetic Diseases, Inborn - genetics | Lung Neoplasms - pathology | Male | Meningioma - genetics | Genetic Diseases, Inborn - pathology | Loss of Heterozygosity | Adenocarcinoma - metabolism | DNA Mutational Analysis | Melanoma - genetics | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Ubiquitin Thiolesterase - metabolism | Adult | Female | Adenocarcinoma - genetics | Genetic Diseases, Inborn - metabolism | Uveal Neoplasms - metabolism | Microsatellite Repeats | Lung Neoplasms - genetics | Melanoma - metabolism | Uveal Neoplasms - genetics | Genetic Predisposition to Disease - genetics | Tumor Suppressor Proteins - metabolism | Meningeal Neoplasms - genetics | Meningioma - metabolism | Uveal Neoplasms - pathology | Gene Silencing | Chromosomes, Human, Pair 3 - metabolism | Melanoma - pathology | Ubiquitin Thiolesterase - genetics | Meningioma - pathology | Pedigree | Meningeal Neoplasms - metabolism | Meningeal Neoplasms - pathology | Chromosomes, Human, Pair 3 - genetics | Genetic aspects | Research | BRCA mutations | Cancer
Journal Article
Nature Neuroscience, ISSN 1097-6256, 11/2012, Volume 15, Issue 11, pp. 1488 - 1497
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.... 
NEURODEGENERATIVE DISEASE | GENE | AMYOTROPHIC-LATERAL-SCLEROSIS | FAMILY PROTEINS | FUS PATHOLOGY | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | BINDING | NEUROSCIENCES | BRAIN | NASCENT TRANSCRIPTION | RNA, Small Interfering - genetics | Protein Binding - genetics | Oligonucleotide Array Sequence Analysis | Humans | tau Proteins - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Kv Channel-Interacting Proteins - metabolism | Brain - metabolism | Frontotemporal Dementia - metabolism | RNA Splicing - genetics | Frontotemporal Dementia - genetics | RNA-Binding Protein FUS - deficiency | Amyotrophic Lateral Sclerosis - genetics | Cell Cycle Proteins - metabolism | Ubiquitin-Protein Ligases - metabolism | RNA-Binding Protein FUS - genetics | Mice, Knockout | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Shal Potassium Channels - metabolism | Brain - pathology | Mice | Neurofilament Proteins - metabolism | RNA, Small Interfering - metabolism | Immunoprecipitation | Spinal Cord - metabolism | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | tau Proteins - genetics | Cell Cycle Proteins - genetics | Female | RNA Precursors - metabolism | Excitatory Amino Acid Transporter 2 - genetics | Membrane Proteins - metabolism | Frontotemporal Dementia - pathology | Gene Expression Regulation - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | RNA Precursors - genetics | Protein Structure, Tertiary - genetics | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Excitatory Amino Acid Transporter 2 - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Neural Cell Adhesion Molecules - metabolism | Neural Stem Cells - metabolism | Cell Line, Transformed | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Messenger RNA | Health aspects
Journal Article