Article
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Nature communications - 12 May 2022
Bassal Mahmoud A, Samaraweera Saumya E, Lim Kelly, Benard Brooks A, Bailey Sheree, Kaur Satinder, Leo Paul, Toubia John, Thompson-Peach Chloe, Nguyen Tran, Maung Kyaw Ze Ya, Casolari Debora A, Iarossi Diana G, Pagani Ilaria S, Powell Jason, Pitson Stuart, Natera Siria, Roessner Ute, Lewis Ian D, Brown Anna L, Tenen Daniel G, Robinson Nirmal, Ross David M, Majeti Ravindra, Gonda Thomas J, Thomas Daniel, D'Andrea Richard J
Abstract excerpt
The interaction of germline variation and somatic cancer driver mutations is under-investigated. Here we describe the genomic mitochondrial landscape in adult acute myeloid leukaemia (AML) and show that rare variants affecting the nuclear- and mitochondrially-encoded complex I genes show near-mutual exclusivity with somatic driver mutations affecting isocitrate dehydrogenase 1 (IDH1), but not IDH2 suggesting a...
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