Results 1 to 10 of about 16,100 (233)

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 ...
Ali F Alsulami, Pedro H M Torres, Amanda K Chaplin   +2 more
exaly   +8 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
E Dawson, Dogan A
exaly   +4 more sources

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

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
openaire   +3 more sources

Papillary Renal Cell Carcinoma: Demographics, Survival Analysis, Racial Disparities, and Genomic Landscape

Journal of Kidney Cancer and VHL, 2023
Papillary renal cell carcinoma (PRCC) is the second most common histological subtype of renal cell cancer. This research aims to present a large database study highlighting the demographic, clinical, and pathological factors, racial disparities ...
Asad Ullah, Abdul Qahar Khan Yasinzai, Naema Daino, Bisma Tareen, Zulfiqar Haider Jogezai, Haleema Sadia, Nimra Jamil, Girahnaz Baloch, Adil Karim, Kaleemullah Badini, Agha Wali, Abdul Waheed, Marjan Khan, Bina Asif, Kaleemullah Kakar, Saleh Heneidi, Feroze Sidhwa, Nabin R Karki   +17 more
doaj   +3 more sources

Data curation-research: practices of data standardization and exploration in a precision medicine database [PDF]

New Genetics and Society, 2021
Key to precision medicine is the development of expert database projects that gather data, integrate them in the pre-existing database, and publish the product of their processing for others to make use of.
Niccolò Tempini
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
doaj   +2 more sources

Benzo[b]fluoranthene Induces Mutation Accumulation and Cancer-Relevant Mutational Signatures in Mouse Lung Alongside Steady State Levels of Chromosome Damage in Blood. [PDF]

Environ Mol Mutagen
ABSTRACT Polycyclic aromatic hydrocarbons (PAHs) are well‐known for their mutagenic and carcinogenic effects. Benzo[b]fluoranthene (BbF) is one of 16 PAHs prioritized by the US Environmental Protection Agency for toxicological evaluation due to pervasive human exposure.
Zhang X, Hobbs CA, Rivas MV, Diesing A, LeBlanc DPM, Zhou G, Foley JF, White PA, Marchetti F, Yauk CL, Smith-Roe SL.   +10 more
europepmc   +2 more sources

Unravelling the instability of mutational signatures extraction via archetypal analysis

Frontiers in Genetics, 2023
The high cosine similarity between some single-base substitution mutational signatures and their characteristic flat profiles could suggest the presence of overfitting and mathematical artefacts.
Corrado Pancotti, Cesare Rollo, Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Tiziana Sanavia   +5 more
doaj   +1 more source

The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma [PDF]

PeerJ, 2022
Background The genome map of hepatocellular carcinoma (HCC) is complex. In order to explore whether circulating tumor cell DNA (ctDNA) can be used as the basis for sequencing and use ctDNA to find tumor related biomarkers, we analyzed the mutant genes of
Yubo Ding, Jingwei Yao, Meiling Wen, Xiong Liu, Jialu Huang, Minghui Zhang, Yu Zhang, Yufan Lv, Zhuoyi Xie, JianHong Zuo   +9 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   +1 more source