82. Can mitochondrial DNA mutations be used as a biomarker for endometrial cancer?

Endometrial cancer (EC) is one of the most common forms of gynecological cancer, with death rates from this disease doubling over the past 20 years. Most solid tumors harbor at least one mtDNA mutation, and cancer cells can have mixtures of polyploid wild-type and mutant mtDNA genomes, so-called heteroplasmy. We compared mtDNA genomes from three matched sets of peri-normal and EC tumor specimens and determined that each tumor harbors tumor-specific mtDNA mutations. Furthermore, somatic EC mtDNA mutations were investigated in aggregate from several published studies.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Pabitra Khadka, Carolyn Young, Taryn Sauerbrunn, Kathleen Groesch, Kathy Robinson, Andrea Braundmeier-Fleming, Ravi Sachidanandam, Dale Buck Hales, Laurent Brard, Matthew Young Source Type: research