Identification of Ovarian High-Grade Serous Carcinoma with Mitochondrial Gene Variation.

ABSTRACT: Women diagnosed with advanced-stage ovarian cancer have a much worse survival rate than women diagnosed with early-stage ovarian cancer, but the early detection of this disease remains a clinical challenge. Some recent reports indicate that genetic variations could be useful for the early detection of several malignancies. In this pilot observational retrospective study, we aimed to assess whether mitochondrial DNA (mtDNA) variations could discriminate the most frequent type of ovarian cancer, high-grade serous carcinoma (HGSC), from normal tissue. We identified mtDNA variations from 20 whole-exome sequenced (WES) HGSC samples and 14 controls (normal tubes) using the best practices of genome sequencing. We built prediction models of cancer with these variants, with good performance measure

SUBMITTER: Gonzalez Bosquet J 

PROVIDER: S-EPMC11818617 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature