Mitochondrial DNA is a major source of driver mutations in cancer Review

   


Authors: Kim, M.; Mahmood, M.; Reznik, E.; Gammage, P. A.
Review Title: Mitochondrial DNA is a major source of driver mutations in cancer
Abstract: Mitochondrial DNA (mtDNA) mutations are among the most common genetic events in all tumors and directly impact metabolic homeostasis. Despite the central role mitochondria play in energy metabolism and cellular physiology, the role of mutations in the mitochondrial genomes of tumors has been contentious. Until recently, genomic and functional studies of mtDNA variants were impeded by a lack of adequate tumor mtDNA sequencing data and available methods for mitochondrial genome engineering. These barriers and a conceptual fog surrounding the functional impact of mtDNA mutations in tumors have begun to lift, revealing a path to understanding the role of this essential metabolic genome in cancer initiation and progression. Here we discuss the history, recent developments, and challenges that remain for mitochondrial oncogenetics as the impact of a major new class of cancer-associated mutations is unveiled. © 2022 The Authors
Keywords: gene mutation; somatic mutation; genetics; missense mutation; mutation; review; neoplasm; neoplasms; metabolism; genetic variability; genotype; gene frequency; cancer cell; mutation rate; dna, mitochondrial; mitochondria; mitochondrion; mutagenesis; nonsense mutation; mitochondrial dna; genome, mitochondrial; single cell analysis; mitochondrial genome; cancer; humans; human; genome editing; gene editing; heteroplasmy; malignant neoplasm; silent mutation; mutation selection; mitochondrial genetics
Journal Title: Trends in Cancer
Volume: 8
Issue: 12
ISSN: 2405-8025
Publisher: Cell Press  
Date Published: 2022-12-01
Start Page: 1046
End Page: 1059
Language: English
DOI: 10.1016/j.trecan.2022.08.001
PUBMED: 36041967
PROVIDER: scopus
PMCID: PMC9671861
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85136668155&doi=10.1016%2fj.trecan.2022.08.001&partnerID=40&md5=09bf05266a9362452d1b3ba5fd4810e4
Notes: Review -- Export Date: 1 December 2022 -- Source: Scopus
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MSK Authors
  1. Eduard Reznik
    108 Reznik
  2. Minsoo Kim
    9 Kim
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