Mitochondrial DNA sequencing of tumor and peri-normal specimens obtained from three endometrial cancer patients

We investigated the mtDNA genotypes within peri-normal and tumor specimens obtained from three individuals diagnosed with endometrial carcinoma. DNA extracts from peri-normal and tumor tissues were used for mtDNA-specific next-generation sequencing. The three tumors harbor heteroplasmic somatic mutations, and at least one mutation in each carcinoma is predicted to deleteriously alter a mtDNA-encoded protein. Somatic heteroplasmy linked to two mtDNA tRNA genes was found in separate tumors, and two heteroplasmic non-coding variants were identified in a single EC tumor.