Results 21 to 30 of about 7,424,997 (207)

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

Topography of mutational signatures in human cancer

Cell Reports, 2023
Summary: The somatic mutations found in a cancer genome are imprinted by different mutational processes. Each process exhibits a characteristic mutational signature, which can be affected by the genome architecture.
Burçak Otlu, Marcos Díaz-Gay, Ian Vermes, Erik N. Bergstrom, Maria Zhivagui, Mark Barnes, Ludmil B. Alexandrov   +6 more
doaj   +1 more source

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   +1 more source

Identification of a Gene Signature to Aid Treatment Decisions by Integrated Analysis of Mutated Genes Between Primary and Metastatic Prostate Cancer

Frontiers in Genetics, 2022
Prostate cancer is one of the most common malignancies in males. Despite the recent development of advanced diagnostic platforms and treatment, patients with metastatic disease still have a poor five-year survival rate.
Qinyu Li, Xueyan Xiao, Bingliang Chen, Guoda Song, Kai Zeng, Jianping Miao   +5 more
doaj   +1 more source

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.
Zappa, Achille, Romano, Paolo
openaire   +2 more sources

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients

BMC Cancer, 2019
Background Significant numbers of variants detected in cancer patients are often left labeled only as variants of unknown significance (VUS). In order to expand precision medicine to a wider population, we need to extend our knowledge of pathogenicity ...
Takahiko Koyama, Kahn Rhrissorrakrai, Laxmi Parida   +2 more
doaj   +1 more source

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

BMC Bioinformatics, 2018
Background Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice.
Marcos Díaz-Gay, Maria Vila-Casadesús, Sebastià Franch-Expósito, Eva Hernández-Illán, Juan José Lozano, Sergi Castellví-Bel   +5 more
doaj   +1 more source

Prominent features of the amino acid mutation landscape in cancer. [PDF]

PLoS ONE, 2017
Cancer can be viewed as a set of different diseases with distinctions based on tissue origin, driver mutations, and genetic signatures. Accordingly, each of these distinctions have been used to classify cancer subtypes and to reveal common features. Here,
Zachary A Szpiech, Nicolas B Strauli, Katharine A White, Diego Garrido Ruiz, Matthew P Jacobson, Diane L Barber, Ryan D Hernandez   +6 more
doaj   +1 more source

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   +1 more source

CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia

Platelets, 2022
Essential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene.
Nora El Jahrani, Gabriel Cretin, Alexandre G. de Brevern   +2 more
doaj   +1 more source