Fig. 5: Deleterious mtDNA mutation loads are a potent biomarker of overall survival. | Nature Communications

Fig. 5: Deleterious mtDNA mutation loads are a potent biomarker of overall survival.

From: Divergent trajectories to structural diversity impact patient survival in high grade serous ovarian cancer

Fig. 5: Deleterious mtDNA mutation loads are a potent biomarker of overall survival.The alternative text for this image may have been generated using AI.

A Somatic (inner ring) and germline (outer) SNV frequencies across the cohort in mitochondrial encoded genes (black: single nucleotide variants; red: indels). B Abundant somatic SNVs disproportionately impact protein-coding genes in mtDNA (758 SNVs in coding genes of 1245 SNVs in total). C SNVs categorised by VEP functional impact annotation include many protein-altering variants expected to alter mitochondrial complex functions. D Overall survival Cox proportional hazard (PH) ratio (95% confidence intervals in blue) increases with increasing heteroplasmy of deleterious mtDNA mutations (Cox PH p-value = 0.0002; N = 277 patients, stratified by cohort and adjusted for age, stage and HRD status). E Overall survival Cox PH ratio (95% confidence intervals in blue) is stable with increasing heteroplasmy of synonymous mtDNA mutations (Cox PH p-value = 0.91; N = 277 patients, stratified by cohort and adjusted for age, stage and HRD status). mtDNA SNV data are in Supplementary Data 13.

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