Results 21 to 30 of about 18,996,847 (344)

MutationalPatterns: comprehensive genome-wide analysis of mutational processes [PDF]

Genome Medicine, 2018
Background Base substitution catalogues represent historical records of mutational processes that have been active in a cell. Such processes can be distinguished by various characteristics, like mutation type, sequence context, transcriptional and ...
Francis Blokzijl, Roel Janssen, Ruben van Boxtel, Edwin Cuppen   +3 more
doaj   +3 more sources

The topography of mutational processes in breast cancer genomes [PDF]

Nature Communications, 2016
Mutational signatures provide evidence of the mechanism of action of a given mutagen and are found in cancer cells. Here, using 560 breast cancer genomes, the authors demonstrate that mutational signatures are frequently associated with genomic ...
Sandro Morganella, Ludmil B. Alexandrov, Dominik Glodzik, Xueqing Zou, Helen Davies, Johan Staaf, Anieta M. Sieuwerts, Arie B. Brinkman, Sancha Martin, Manasa Ramakrishna, Adam Butler, Hyung-Yong Kim, Åke Borg, Christos Sotiriou, P. Andrew Futreal, Peter J. Campbell, Paul N. Span, Steven Van Laere, Sunil R. Lakhani, Jorunn E. Eyfjord, Alastair M. Thompson, Hendrik G. Stunnenberg, Marc J. van de Vijver, John W. M. Martens, Anne-Lise Børresen-Dale, Andrea L. Richardson, Gu Kong, Gilles Thomas, Julian Sale, Cristina Rada, Michael R. Stratton, Ewan Birney, Serena Nik-Zainal   +32 more
doaj   +3 more sources

Mutational processes shape the landscape of TP53 mutations in human cancer. [PDF]

Nat Genet, 2018
Unlike most tumor suppressor genes, the most common genetic alterations in tumor protein p53 (TP53) are missense mutations1,2. Mutant p53 protein is often abundantly expressed in cancers and specific allelic variants exhibit dominant-negative or gain-of ...
Giacomelli AO, Yang X, Lintner RE, McFarland JM, Duby M, Kim J, Howard TP, Takeda DY, Ly SH, Kim E, Gannon HS, Hurhula B, Sharpe T, Goodale A, Fritchman B, Steelman S, Vazquez F, Tsherniak A, Aguirre AJ, Doench JG, Piccioni F, Roberts CWM, Meyerson M, Getz G, Johannessen CM, Root DE, Hahn WC.   +26 more
europepmc   +5 more sources

Biochemical reconstitution of UV-induced mutational processes. [PDF]

Nucleic Acids Res, 2019
We reconstituted two biochemical processes that may contribute to UV-induced mutagenesis in vitro and analysed the mutational profiles in the products.
Sugiyama T, Chen Y.
europepmc   +5 more sources

Mutational processes of tobacco smoking and APOBEC activity generate protein-truncating mutations in cancer genomes. [PDF]

Sci Adv, 2023
Mutational signatures represent a footprint of tumor evolution and its endogenous and exogenous mutational processes. However, their functional impact on the proteome remains incompletely understood.
Adler N, Bahcheli AT, Cheng KCL, Al-Zahrani KN, Slobodyanyuk M, Pellegrina D, Schramek D, Reimand J.   +7 more
europepmc   +2 more sources

Ovarian cancer mutational processes drive site-specific immune evasion. [PDF]

Nature, 2022
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability 1 – 4 patterned by distinct mutational processes 5 , 6 , tumour heterogeneity 7 – 9 and intraperitoneal spread 7 , 8 , 10 .
Vázquez-García I, Uhlitz F, Ceglia N, Lim JLP, Wu M, Mohibullah N, Niyazov J, Ruiz AEB, Boehm KM, Bojilova V, Fong CJ, Funnell T, Grewal D, Havasov E, Leung S, Pasha A, Patel DM, Pourmaleki M, Rusk N, Shi H, Vanguri R, Williams MJ, Zhang AW, Broach V, Chi DS, Da Cruz Paula A, Gardner GJ, Kim SH, Lennon M, Long Roche K, Sonoda Y, Zivanovic O, Kundra R, Viale A, Derakhshan FN, Geneslaw L, Issa Bhaloo S, Maroldi A, Nunez R, Pareja F, Stylianou A, Vahdatinia M, Bykov Y, Grisham RN, Liu YL, Lakhman Y, Nikolovski I, Kelly D, Gao J, Schietinger A, Hollmann TJ, Bakhoum SF, Soslow RA, Ellenson LH, Abu-Rustum NR, Aghajanian C, Friedman CF, McPherson A, Weigelt B, Zamarin D, Shah SP.   +60 more
europepmc   +2 more sources

Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations. [PDF]

PLoS Genetics, 2018
Driver mutations are the genetic variants responsible for oncogenesis, but how specific somatic mutational events arise in cells remains poorly understood. Mutational signatures derive from the frequency of mutated trinucleotides in a given cancer sample,
Rebecca C Poulos, Yuen T Wong, Regina Ryan, Herbert Pang, Jason W H Wong   +4 more
doaj   +3 more sources

Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours [PDF]

Nature Communications, 2022
Vinayak Bhandari, Constance H. Li, Robert G. Bristow, Paul C. Boutros, PCAWG Consortium   +4 more
doaj   +4 more sources

Single-cell genomic variation induced by mutational processes in cancer. [PDF]

Nature, 2022
How cell-to-cell copy number alterations that underpin genomic instability1 in human cancers drive genomic and phenotypic variation, and consequently the evolution of cancer2, remains understudied.
Funnell T, O'Flanagan CH, Williams MJ, McPherson A, McKinney S, Kabeer F, Lee H, Salehi S, Vázquez-García I, Shi H, Leventhal E, Masud T, Eirew P, Yap D, Zhang AW, Lim JLP, Wang B, Brimhall J, Biele J, Ting J, Au V, Van Vliet M, Liu YF, Beatty S, Lai D, Pham J, Grewal D, Abrams D, Havasov E, Leung S, Bojilova V, Moore RA, Rusk N, Uhlitz F, Ceglia N, Weiner AC, Zaikova E, Douglas JM, Zamarin D, Weigelt B, Kim SH, Da Cruz Paula A, Reis-Filho JS, Martin SD, Li Y, Xu H, de Algara TR, Lee SR, Llanos VC, Huntsman DG, McAlpine JN, IMAXT Consortium, Shah SP, Aparicio S.   +53 more
europepmc   +2 more sources

Distinct mutational processes shape selection of MHC class I and class II mutations across primary and metastatic tumors. [PDF]

Cell Rep, 2023
Disruption of antigen presentation via loss of MHC expression is a strategy whereby cancer cells escape immune surveillance and develop resistance to immunotherapy.
Mumphrey MB, Hosseini N, Parolia A, Geng J, Zou W, Raghavan M, Chinnaiyan A, Cieslik M.   +7 more
europepmc   +2 more sources