Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines
Year: 2017
Type: article
Abstract: Tumors are characterized by variable numbers of somatic variants that have accumulated during the life history of the cancer cell as a result of abnormal DNA replication and/or DNA repair processes. The classification of such variants into six types based on the nucleotide change was used in the past to differentiate the crude mutation pattern of different cancers. 1 Recently, the 5′- and 3′-context of each substitution was included in such analyses, expanding the combinations to 96 possible mutation types. This trinucleotide mutational model represents the combined effect of several mutational signatures, and has enough resolution to allow deconvolution of the underlying mutational processes through the non-negative matrix factorization (NNMF) algorithm. 2 To date, more than 30 distinct signatures have been identified, opening the field to the investigation of the biological processes responsible for shaping the genome of cancer, and allowing a deeper understanding of their relative contribution in different cancer types. 2 , 3
Source: Leukemia
DOI: 10.1038/leu.2017.345
Institutions: University of Milan, Wellcome Sanger Institute, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, National Research Council, Translational Genomics Research Institute, University of California San Diego, Moores Cancer Center, Harvard University, Dana-Farber Cancer Institute, Dana-Farber/Harvard Cancer Center, Fondazione IRCCS Istituto Nazionale dei Tumori, Centre National de la Recherche Scientifique, Inserm, Centre Hospitalier Universitaire de Nantes, Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers, Université de Nantes, Université d'Angers, Nantes Université, Institut universitaire du cancer de Toulouse Oncopole, VA Boston Healthcare System
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,190
OpenAlex ID: W2773978309