Mitochondrial DNA (mtDNA) mutations have been described in virtually all cancer types. However, due to the peculiarities of mitochondrial genetics and cancer heterogeneity, it has been difficult to assess their role in tumorigenesis and cancer progression. The advent of massive sequencing and large public data repositories are allowing to gain insight about the evolution of mtDNA variants and somewhat predict their functional effects. Here, the current knowledge of mtDNA mutation landscape in cancer is described, which generally implies to a negative selection of severely pathogenic lesions. The interplay between mtDNA mutations and different stages of progressing solid tumors is discussed, together with the potential of mtDNA variants to be used as diagnostic markers in certain cancer contexts.
Girolimetti, G., De Luise, M., Porcelli, A.M., Gasparre, G., Kurelac, I. (2020). mtDNA mutations in cancer. London : Elsevier [10.1016/B978-0-12-819656-4.00017-6].
mtDNA mutations in cancer
Girolimetti G.;De Luise M.;Porcelli A. M.;Gasparre G.;Kurelac I.
2020
Abstract
Mitochondrial DNA (mtDNA) mutations have been described in virtually all cancer types. However, due to the peculiarities of mitochondrial genetics and cancer heterogeneity, it has been difficult to assess their role in tumorigenesis and cancer progression. The advent of massive sequencing and large public data repositories are allowing to gain insight about the evolution of mtDNA variants and somewhat predict their functional effects. Here, the current knowledge of mtDNA mutation landscape in cancer is described, which generally implies to a negative selection of severely pathogenic lesions. The interplay between mtDNA mutations and different stages of progressing solid tumors is discussed, together with the potential of mtDNA variants to be used as diagnostic markers in certain cancer contexts.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
