Results 61 to 70 of about 1,861,621 (385)

A global transcriptional network connecting noncoding mutations to changes in tumor gene expression. [PDF]

, 2018
Although cancer genomes are replete with noncoding mutations, the effects of these mutations remain poorly characterized. Here we perform an integrative analysis of 930 tumor whole genomes and matched transcriptomes, identifying a network of 193 ...
Bojorquez-Gomez, Ana, Carter, Hannah, Chen, Kevin, Farley, Emma K, Fraley, Stephanie I, Huang, Justin K, Ideker, Trey, Kreisberg, Jason F, Licon, Katherine, Melton, Collin, Olson, Katrina M, Sanchez, Kyle S, Shen, John Paul, Snyder, Michael, Velez, Daniel Ortiz, Xu, Guorong, Yu, Michael Ku, Zhang, Wei   +17 more
core   +1 more source

Genotyping of Transcriptomes links somatic mutations and cell identity

Nature, 2019
Defining the transcriptomic identity of malignant cells is challenging in the absence of surface markers that distinguish cancer clones from one another, or from admixed non-neoplastic cells.
Anna S. Nam, Kyu-Tae Kim, R. Chaligné, Franco Izzo, Chelston R Ang, Justin Taylor, Robert M. Myers, G. Abu-Zeinah, Ryan Brand, Nathaniel D. Omans, A. Alonso, Caroline Sheridan, Marisa Mariani, Xiaoguang Dai, E. Harrington, A. Pastore, J. Cubillos-Ruiz, W. Tam, R. Hoffman, R. Rabadán, J. Scandura, O. Abdel-Wahab, Peter Smibert, D. Landau   +23 more
semanticscholar   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

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

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 ...
S. Forbes, Nidhi Bindal, S. Bamford, C. Cole, C. Kok, D. Beare, Mingming Jia, Rebecca Shepherd, Kenric Leung, A. Menzies, J. Teague, P. Campbell, M. Stratton, P. Futreal   +13 more
semanticscholar   +1 more source

Prevalence of somatic mutations in aldosterone-producing adenomas in Japanese.

Journal of Clinical Endocrinology and Metabolism, 2020
CONTEXT Results of previous studies demonstrated clear racial differences in the prevalence of somatic mutations among aldosterone-producing adenoma (APA) patients.
K. Nanba, Y. Yamazaki, Nolan R Bick, K. Onodera, Y. Tezuka, K. Omata, Y. Ono, A. Blinder, S. Tomlins, W. Rainey, F. Satoh, H. Sasano   +11 more
semanticscholar   +1 more source

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1. [PDF]

PLoS ONE, 2017
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood.
Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot   +4 more
doaj   +1 more source

Characterization of pathogenic germline mutations in human Protein Kinases [PDF]

, 2011
Background: Protein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contribute to the study of the relation
Baresic, A, Hopcroft, LEM, Izarzugaza, JMG, Martin, ACR, Orengo, CA, Valencia, A   +5 more
core   +1 more source

Maftools: efficient and comprehensive analysis of somatic variants in cancer

Genome Research, 2018
Numerous large-scale genomic studies of matched tumor-normal samples have established the somatic landscapes of most cancer types. However, the downstream analysis of data from somatic mutations entails a number of computational and statistical ...
A. Mayakonda, D. Lin, Y. Assenov, C. Plass, H. Koeffler   +4 more
semanticscholar   +1 more source

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma

Scientific Reports, 2023
A hallmark of cancer is a tumor cell’s ability to evade immune destruction. Somatic mutations in tumor cells that prevent immune destruction have been extensively studied.
Ramu Anandakrishnan, Ian J. Zyvoloski, Lucas R. Zyvoloski, Nana K. Opoku, Andrew Dai, Veneeth Antony   +5 more
doaj   +1 more source

Challenges in identifying cancer genes by analysis of exome sequencing data. [PDF]

, 2016
Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours.
Bandyopadhyay, Sourav, Carter, Hannah, Friend, Stephen, Hofree, Matan, Ideker, Trey, Kreisberg, Jason F, Mischel, Paul S   +6 more
core   +1 more source