Results 11 to 20 of about 277,677 (243)

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

The 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 tumor cells relevant to prescription regimens for cancer patients.
Kennedy, Kuchinski, Nathaniel, King, Julia, Driggers, Kylie, Lawson, Martin, Vo, Shayne, Skrtic, Connor, Slattery, Rebecca, Lane, Emma, Simone, Stephen A, Mills, Wilber, Escorcia, Hanna, Wetzel   +11 more
semanticscholar   +4 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

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

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer [PDF]

Nucleic Acids Res., 2010
COSMIC (http://www.sanger.ac.uk/cosmic) curates comprehensive information on somatic mutations in human cancer. Release v48 (July 2010) describes over 136 000 coding mutations in almost 542 000 tumour samples; of the 18 490 genes documented, 4803 (26 ...
A. Menzies, C. Cole, C. Y. Kok, D. Beare, Ding, J. W. Teague, K. Leung, M. Jia, M. R. Stratton, McLendon, N. Bindal, P. A. Futreal, P. J. Campbell, Petitjean, Pleasance, R. Shepherd, S. A. Forbes, S. Bamford, Stein, Stephens   +19 more
core   +3 more sources

Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation [PDF]

Frontiers in Oncology
BackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate ...
Ruixin Wu, Ruixin Wu, Sihao Chen, Sihao Chen, Yi He, Yi He, Ya Li, Song Mu, Aishun Jin, Aishun Jin   +9 more
doaj   +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

Identification of Shared Neoantigens in BRCA1-Related Breast Cancer

Vaccines, 2022
Personalized neoantigen-based cancer vaccines have been shown to be safe and immunogenic in cancer patients; however, the manufacturing process can be costly and bring about delays in treatment.
Lucksica Ruangapirom, Nannapat Sutivijit, Chinachote Teerapakpinyo, Apiwat Mutirangura, Chatchanan Doungkamchan   +4 more
doaj   +2 more sources

Comparative study of the evolution of cancer gene duplications across fish

Evolutionary Applications, 2022
Comparative studies of cancer‐related genes not only provide novel information about their evolution and function but also an understanding of cancer as a driving force in biological systems and species’ life histories. So far, these studies have focused
Ciara Baines, Richard Meitern, Randel Kreitsberg, Tuul Sepp   +3 more
doaj   +2 more sources

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma [PDF]

Ophthalmology Science
Objective: Uveal melanoma (UM) poses significant diagnostic and prognostic challenges due to its variable genetic landscape. We explore the use of a novel deep learning tool to assess the functional impact of genetic mutations in UM.
David J. Taylor Gonzalez, MD, Mak B. Djulbegovic, MD, MSc, Meghan Sharma, MD, MPH, Michael Antonietti, BS, Colin K. Kim, BS, Vladimir N. Uversky, PhD, DSc, Carol L. Karp, MD, Carol L. Shields, MD, Matthew W. Wilson, MD   +8 more
doaj   +2 more sources