Results 1 to 10 of about 14,211 (155)

COSMIC: a curated database of somatic variants and clinical data for cancer [PDF]

Nucleic Acids Research, 2023
Abstract The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer.sanger.ac.uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in cancer, supported by a comprehensive suite of tools for interpreting genomic data, discerning the impact of somatic alterations on disease, and facilitating ...
Zbyslaw Sondka, Nidhi Bindal Dhir, Denise Carvalho-Silva, Steven Jupe, null Madhumita, Karen McLaren, Mike Starkey, Sari Ward, Jennifer Wilding, Madiha Ahmed, Joanna Argasinska, David Beare, Manpreet Singh Chawla, Stephen Duke, Ilaria Fasanella, Avirup Guha Neogi, Susan Haller, Balazs Hetenyi, Leonie Hodges, Alex Holmes, Rachel Lyne, Thomas Maurel, Sumodh Nair, Helder Pedro, Amaia Sangrador-Vegas, Helen Schuilenburg, Zoe Sheard, Siew Yit Yong, Jon Teague   +28 more
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COSMIC Cancer Gene Census 3D database: understanding the impacts of mutations on cancer targets [PDF]

Briefings in Bioinformatics, 2021
AbstractMutations in hallmark genes are believed to be the main drivers of cancer progression. These mutations are reported in the Catalogue of Somatic Mutations in Cancer (COSMIC). Structural appreciation of where these mutations appear, in protein–protein interfaces, active sites or deoxyribonucleic acid (DNA) interfaces, and predicting the impacts ...
Alsulami, Ali F, Torres, Pedro HM, Moghul, Ismail, Arif, Sheikh Mohammed, Chaplin, Amanda K, Vedithi, Sundeep Chaitanya, Blundell, Tom L   +6 more
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The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website [PDF]

British Journal of Cancer, 2004
The discovery of mutations in cancer genes has advanced our understanding of cancer. These results are dispersed across the scientific literature and with the availability of the human genome sequence will continue to accrue. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website have been developed to store somatic mutation data in
Bamford, S, Dawson, E, Forbes, S, Clements, J, Pettett, R, Dogan, A, Flanagan, A, Teague, J, Futreal, P A, Stratton, M R, Wooster, R   +10 more
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A first RDF implementation of the COSMIC database on mutations in cancer

EMBnet.journal, 2012
Motivation and Objectives Within a living organism, genome and proteome variations may influence many molecular interactions and biochemical pathways, leading to deleterious effects in the proper activity of cells, tissues, and organs; ultimately, this may be the cause of many syndromes and diseases.
Achille Zappa, Paolo Romano
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Predictive Modeling of Novel Somatic Mutation Impacts on Cancer Prognosis: A Machine Learning Approach Using the COSMIC Database [PDF]

Abstract Background Somatic mutations play a crucial role in cancer initiation, progression, and treatment response. While high-throughput sequencing has vastly expanded our understanding of cancer genomics, interpreting the functional impact of novel somatic mutations remains challenging. Machine learning approaches show promise in predicting mutation
Masab Mansoor
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22-Position Amino Acid Wheel Analysis Reveals Non_Random Distribution of Cancer Driver Mutations: A COSMIC Database Validation Study

ORCID: [Your ORCID ID] ABSTRACT Background: The genetic code comprises 22 amino acids (20 canonical plus Selenocysteine and Pyrrolysine). We hypothesized that arranging these amino acids in a circular wheel and classifying positions as "Prime" (positions 2, 3, 5, 7, 11, 13, 17, 19) or "Forbidden" (all others) would reveal non-random patterns in ...
MacDiarmid, Mary
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Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases [PDF]

Scientific Reports
The JAK-STAT pathway is central to cytokine signaling and controls normal physiology and disease. Aberrant activation via mutations that change amino acids in proteins of the pathway can result in diseases.
Markus Hoffmann, Lothar Hennighausen
doaj   +2 more sources

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region [PDF]

Cells
Breast cancer remains a major global health challenge. Yet, genomic data from Middle Eastern and North African (MENA) populations are limited, restricting insights into disease drivers and therapeutic opportunities in this demographic.
Dinesh Velayutham, Ramesh Elango, Sameera Rashid, Reem Al-Sarraf, Mohammed Akhtar, Khalid Ouararhni, Puthen Veettil Jithesh, Nehad M. Alajez   +7 more
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Clinical predictors of survival in malignant peripheral nerve sheath tumors of the head and neck: A cox regression and nomogram study [PDF]

Brazilian Journal of Otorhinolaryngology
Objectives: Malignant Peripheral Nerve Sheath Tumors (MPNST) are rapidly progressing Schwann cell neoplasms. This study aimed to develop a practical clinical nomogram that predicts prognosis in patients with Head and Neck MPNST (HN-MPNST) using the ...
Sun LiNa, Tu Jianfei, Tian Zhifeng, Wang Xinbin, Wu Hui   +4 more
doaj   +2 more sources

A structure-based tool to interpret the significance of kinase mutations in clinical next generation sequencing in cancer [PDF]

Frontiers in Oncology
IntroductionClinical workflows to analyze variants of unknown significance (VUSs) found in clinical next generation sequencing (NGS) are labor intensive, requiring manual analysis of published data for each variant.
Amith Rangarajan, Ilona Sviezhentseva, Emma Gunderson, Yana Pikman, Yana Pikman, Matthew P. Jacobson, Beth Apsel Winger, Beth Apsel Winger   +7 more
doaj   +2 more sources