Results 1 to 10 of about 258,080 (198)

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

Nucleic Acids Res, 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 ...
Sondka Z, Dhir NB, Carvalho-Silva D, Jupe S, Madhumita, McLaren K, Starkey M, Ward S, Wilding J, Ahmed M, Argasinska J, Beare D, Chawla MS, Duke S, Fasanella I, Neogi AG, Haller S, Hetenyi B, Hodges L, Holmes A, Lyne R, Maurel T, Nair S, Pedro H, Sangrador-Vegas A, Schuilenburg H, Sheard Z, Yong SY, Teague J.   +28 more
europepmc   +5 more sources

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
semanticscholar   +7 more sources

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
Simon A. Forbes, Sally Bamford, Michael R. Stratton, Jody Clements, P A Futreal, Roger Pettett, Richard Wooster, Adrienne M. Flanagan, Jon W. Teague, Ahmet Dogan, Elisabeth Dawson   +10 more
semanticscholar   +5 more sources

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
semanticscholar   +8 more sources

Predictive Modeling of Novel Somatic Mutation Impacts on Cancer Prognosis: A Machine Learning Approach Using the COSMIC Database [PDF]

medRxiv
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 A. Mansoor
semanticscholar   +3 more sources

An analysis of the role of GAB2 in pan-cancer from a multidimensional perspective [PDF]

Discover Oncology
Background To explore the role of GAB2 in pan-cancer based on bioinformatics analysis. Methods Based on TCGA and GTEx databases, we used TIMER2.0 online analysis tool and R language to analyze the expression of GAB2 in pan-cancer.
Yi Yin, Yong Li, Yaoyang Zhang, Qiucheng Jia, Huiming Tang, Jiming Chen, Rui Ji   +6 more
doaj   +3 more sources

Understanding the impacts of missense mutations on structures and functions of human cancer-related genes: A preliminary computational analysis of the COSMIC Cancer Gene Census.

PLoS ONE, 2019
Genomics and genome screening are proving central to the study of cancer. However, a good appreciation of the protein structures coded by cancer genes is also invaluable, especially for the understanding of functions, for assessing ligandability of ...
Sony Malhotra, Ali F Alsulami, Yang Heiyun, Bernardo Montano Ochoa, Harry Jubb, Simon Forbes, Tom L Blundell   +6 more
doaj   +2 more sources

COSMIC Database and Structural Modeling Analysis of CYP2D6 Mutations in Human Cancers [PDF]

Journal of Pharmacology and Experimental Therapeutics
Single nucleotide polymorphisms (SNPs) in cytochrome P450 (CYP450) enzymes alter the metabolism of a variety of drugs. Numerous medications, including chemotherapies, are metabolized by CYP450 enzymes, making the expression of this suite of enzymes in ...
Kennedy Kuchinski, N. W. King, Julia Driggers, Kylie Lawson, Martin Vo, Shayne Skrtic, Connor Slattery, Rebecca Lane, Emma Simone, Stephen A. Mills, Wilber Escorcia, Hanna N. Wetzel   +11 more
openalex   +2 more sources

Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population

BMC Medical Genomics, 2022
Purpose To analyze the mutational landscape of pan-cancer patients with PIK3CA mutations in Chinese population in real-world. Methods We analyzed PIK3CA mutation status in sequencing data of cell-free DNA from plasma and genomic DNA from matched ...
Qingfeng Huang, Yang Zhou, Bowen Wang, Yi Zhao, Fengxia Zhang, Bowen Ding   +5 more
doaj   +2 more sources

In-silico probing of AML related RUNX1 cancer-associated missense mutations: Predicted relationships to DNA binding and drug interactions

Frontiers in Molecular Biosciences, 2022
The molecular consequences of cancer associated mutations in Acute myeloid leukemia (AML) linked factors are not very well understood. Here, we interrogated the COSMIC database for missense mutations associated with the RUNX1 protein, that is frequently ...
Hanif Ullah, Hanif Ullah, Hanif Ullah, Baoyun Zhang, Baoyun Zhang, Narendra Kumar Sharma, Pierre D. McCrea, Pierre D. McCrea, Yogesh Srivastava, Yogesh Srivastava, Yogesh Srivastava   +10 more
doaj   +2 more sources