Alex Gorelick Profile picture
Cancer genomics, tumor evolution, early cancer detection, mtDNA | Postdoc with @jgreiter at Stanford | PhD from Cornell/MSKCC | he/him
9 Apr
1/ Are you a cancer genomicist on the hunt for more genes with recurrent somatic mutations relevant to multiple cancer types? Allow me to introduce this work now at @NatMetabolism with @EdReznik @sloan_kettering and @mito_oncogene @CRUK_BI
nature.com/articles/s4225…
2/ For the uninitiated, the 37 genes in mitochondrial genome encode proteins and RNAs necessary for the electron transport chain to generate cells' ATP. mtDNA mutations are well-known to cause potent disease (e.g. MELAS), but poorly understood in cancer.
3/ Why? chrM usually isn't targeted when sequencing tumors, so progress was slow until large cohorts of whole-genome sequenced tumors became possible, and even with PCAWG, sample size is still limited for finding recurrent mutations and phenotypic associations.
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