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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 | Index Medicus
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2013, Volume 133, Issue 9, pp. 2229 - 2236
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in , , and have been described... 
MC1R | VARIANTS | RAS | BRAF MUTATIONS | HIGH-FREQUENCY | PHENOTYPE | NEUROLOGICALLY ASYMPTOMATIC CHILDREN | ASSOCIATION | REGISTRY | MOSAICISM | DERMATOLOGY | Meningeal Neoplasms - epidemiology | Prevalence | Nevus, Pigmented - epidemiology | Humans | Child, Preschool | Male | Neurocutaneous Syndromes - congenital | Meningioma - genetics | Mutation, Missense - genetics | Loss of Heterozygosity - genetics | Hamartoma - pathology | Young Adult | Hamartoma - genetics | Nevus, Pigmented - genetics | Meningioma - epidemiology | Zygote | Female | Genetic Predisposition to Disease - epidemiology | Neurocutaneous Syndromes - epidemiology | Child | Melanosis - epidemiology | Melanosis - genetics | Neurocutaneous Syndromes - genetics | Genetic Predisposition to Disease - genetics | Meningeal Neoplasms - genetics | Membrane Proteins - genetics | Central Nervous System Neoplasms - genetics | Risk Factors | Hamartoma - epidemiology | Central Nervous System Neoplasms - epidemiology | Melanosis - congenital | Skin Neoplasms - epidemiology | Nevus, Pigmented - congenital | Magnetic Resonance Imaging | Meningioma - pathology | Central Nervous System Neoplasms - pathology | GTP Phosphohydrolases - genetics | Skin Neoplasms - congenital | Skin Neoplasms - genetics | Adolescent | Mosaicism | Meningeal Neoplasms - pathology | Index Medicus | Original
Journal Article
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2017, Volume 18, Issue 5, pp. 682 - 694
Journal Article
Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6123, pp. 1077 - 1080
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 275 - 286
Journal Article
Cancer Epidemiology Biomarkers & Prevention, ISSN 1055-9965, 08/2007, Volume 16, Issue 8, pp. 1655 - 1661
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2011, Volume 121, Issue 3, pp. 397 - 405
Missense mutations of the V600E type constitute the vast majority of tumor-associated somatic alterations in the v-RAF murine sarcoma viral oncogene homolog B1... 
Brain tumor | Pathology | Neurosciences | Ganglioglioma | V600E mutation | Medicine & Public Health | BRAF | Pleomorphic xanthoastrocytoma | GLIOMAS | B-RAF GENE | PATHOLOGY | CANCER | NEUROSCIENCES | CLINICAL NEUROLOGY | PATHWAY ACTIVATION | ATYPICAL TERATOID/RHABDOID TUMOR | COMPONENT | DUPLICATION | INHIBITOR | MAPK PATHWAY | EXPRESSION | Astrocytoma - genetics | Gene Frequency - genetics | World Health Organization | Signal Transduction | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | Child, Preschool | Exons - genetics | Mutation, Missense - genetics | Young Adult | Ganglioglioma - genetics | Astrocytoma - pathology | Proto-Oncogene Proteins B-raf - genetics | Ganglioglioma - pathology | Adolescent | Adult | Nervous System Neoplasms - genetics | Retrospective Studies | Child | Nervous System Neoplasms - pathology | Medical colleges | Molecular genetics | Sarcoma | Neurons | Brain tumors | Oncology, Experimental | Melanoma | Thyroid diseases | Research | Codon | Gene mutations | Gliomas | Analysis | Genetic research | Genetic aspects | Cancer | Index Medicus | meningioma | Pediatrics | Exons | Glioblastoma | Clinical trials | Insertion | Adenoma | Neuronal-glial interactions | Missense mutation | Sheaths | Colon | Astrocytoma | Oncogenes | Peripheral nervous system | Astrocytes | Base pairs | Central nervous system diseases | Glioma | Pituitary | Codons | papillary thyroid carcinoma | Tumors
Journal Article
Journal Article
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1253 - 1259
Journal Article