Results 11 to 20 of about 18,512,812 (309)

Signatures of mutational processes in human cancer [PDF]

Nature, 2013
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative.
Stefan M. Pfister, Stefan M. Pfister, Ultan McDermott, Tatsuhiro Shibata, Keiran Raine, P. Andrew Futreal, Jessica Zucman-Rossi, Jessica Zucman-Rossi, Yasushi Totoki, Sean M. Grimmond, Tomislav Ilicic, Michael R. Stratton, Michael R. Stratton, Julia Richter, Stian Knappskog, Stian Knappskog, David T. W. Jones, Graham R. Bignell, Reiner Siebert, Elli Papaemmanuil, Samuel Aparicio, Helen Davies, Adam Butler, Marcel Kool, Nikhil C. Munshi, Nikhil C. Munshi, Christine Desmedt, Paul N. Span, Andrew Tutt, Peter Lichter, Jorunn E. Eyfjord, Anne Vincent-Salomon, Mel Greaves, Peter J. Campbell, Peter J. Campbell, Peter J. Campbell, Niccolo Bolli, Niccolo Bolli, Angelo Paradiso, Fumie Hosoda, Carlos Caldas, John V. Pearson, Carlos López-Otín, Nicola Waddell, Barbara Hutter, Natalie Jäger, David C. Wedge, Marina Pajic, Anne Lise Børresen-Dale, Anne Lise Børresen-Dale, Sam Behjati, Sam Behjati, Jon W. Teague, Andrew V. Biankin, Sandrine Boyault, David T. Jones, Lucy R. Yates, Xose S. Puente, Ludmil B. Alexandrov, Paul A. Northcott, Sancha Martin, Philip Rosenstiel, Hiromi Nakamura, Birgit Burkhardt, Icgc PedBrain, Serena Nik-Zainal, Serena Nik-Zainal, Marit M. van Buuren, Åke Borg, Andrea L. Richardson, Andrea L. Richardson, John A. Foekens, Marcin Imielinsk, Matthew Meyerson, Matthew Meyerson, Sunil R. Lakhani, Roland Eils, Matthias Schlesner, Elias Campo, Laura van ’t Veer, Sandrine Imbeaud, Sandrine Imbeaud, Rafael Valdés-Mas, Ton N. Schumacher, Manasa Ramakrishna   +84 more
openaire   +12 more sources

Genetic correlations in mutation processes [PDF]

Physical Review E, 1999
We study the role of phylogenetic trees on correlations in mutation processes. Generally, correlations decay exponentially with the generation number. We find that two distinct regimes of behavior exist. For mutation rates smaller than a critical rate, the underlying tree morphology is almost irrelevant, while mutation rates higher than this critical ...
A. S. Lapedes, Eli Ben-Naim
openaire   +5 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-function activities in experimental models3-8.
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

Mutational processes contributing to the development of multiple myeloma. [PDF]

Blood Cancer J, 2019
AbstractTo gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are differentially dominated by distinct single-nucleotide variant (SNV) mutational signatures, as well as five de novo structural ...
Hoang PH, Cornish AJ, Dobbins SE, Kaiser M, Houlston RS.   +4 more
europepmc   +7 more sources

The effects of mutational processes and selection on driver mutations across cancer types. [PDF]

Nat Commun, 2018
ABSTRACTEpidemiological evidence has long associated environmental mutagens with increased cancer risk. However, links between specific mutation-causing processes and the acquisition of individual driver mutations have remained obscure. Here we have used public cancer sequencing data to infer the independent effects of mutation and selection on driver ...
Temko D, Tomlinson IPM, Severini S, Schuster-Böckler B, Graham TA.   +4 more
europepmc   +12 more sources

Deciphering Signatures of Mutational Processes Operative in Human Cancer

Cell Reports, 2013
The genome of a cancer cell carries somatic mutations that are the cumulative consequences of the DNA damage and repair processes operative during the cellular lineage between the fertilized egg and the cancer cell. Remarkably, these mutational processes
Ludmil B. Alexandrov, Serena Nik-Zainal, David C. Wedge, Peter J. Campbell, Michael R. Stratton   +4 more
doaj   +2 more sources

Mutational Processes Molding the Genomes of 21 Breast Cancers [PDF]

Cell, 2012
All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures ...
Susanna L. Cooke, P. Andrew Futreal, Elli Papaemmanuil, Helen Davies, Anne Lise Børresen-Dale, Anne Lise Børresen-Dale, Keiran Raine, Lucy Stebbings, John D Marshall, Michael R. Stratton, Ian Whitmore, Judy Garber, Peter Van Loo, Peter Van Loo, Peter Van Loo, Kenric Leung, Penelope Miron, Catherine Leroy, Jon W. Teague, Anne Vincent Salomon, John Gamble, David T. Jones, Ignacio Varela, Gilles Thomas, Anita Langerød, Jonathan Hinton, Andrea L. Richardson, Andrew Tutt, Mark Maddison, Göran Jönsson, David J. McBride, Serena Nik-Zainal, Philip J. Stephens, Richard Rance, Sancha Martin, Lina Chen, Åke Borg, Daniel P. Silver, Stuart McLaren, Michael S. Neuberger, Aquila Fatima, Manasa Ramakrishna, Graham R. Bignell, David C. Wedge, Adam Butler, Andrew Menzies, Samuel Aparicio, Adam Shlien, John W.M. Martens, Laura Mudie, Peter J. Campbell, Peter J. Campbell, Peter J. Campbell, Sandrine Boyault, Patrick S. Tarpey, King Wai Lau, Christopher Greenman, Christopher Greenman, Christopher Greenman, Ludmil B. Alexandrov   +59 more
openaire   +7 more sources

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

Nucleic Acids Res, 2019
AbstractWe reconstituted two biochemical processes that may contribute to UV-induced mutagenesis in vitro and analysed the mutational profiles in the products. One process is translesion synthesis (TLS) by DNA polymerases (Pol) δ, η and ζ, which creates C>T transitions at pyrimidine dimers by incorporating two dAMPs opposite of the dimers.
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