TY  - JOUR
T1  - Detection of Ovarian High-Grade Serous Carcinoma through Mitochondrial Gene Variation
A1  - Wei Li
A1  - Chen Hao
A1  - Min Zhang
JF  - Bulletin of Pioneering Researches of Medical and Clinical Science
JO  - Bull Pioneer Res Med Clin Sci
SN  - 3006-2659
Y1  - 2021
VL  - 1
IS  - 1
DO  - 10.51847/i2gdl8Vpw9
SP  - 131
EP  - 142
N2  - Women diagnosed with ovarian cancer at advanced stages have significantly poorer survival outcomes compared to those diagnosed at early stages, yet early detection remains a major clinical challenge. Recent evidence suggests that genetic variations may serve as potential biomarkers for the early identification of various cancers. In this pilot observational retrospective study, we investigated whether mitochondrial DNA (mtDNA) variations could distinguish the most common ovarian cancer subtype, high-grade serous carcinoma (HGSC), from normal tissue. mtDNA variations were analyzed in twenty whole-exome sequenced (WES) HGSC samples and fourteen control fallopian tube samples following established genome sequencing protocols. Using these variants, we developed predictive models for HGSC, achieving strong performance with an area under the curve (AUC) of 0.88 (CI: 0.74–1.00). The variants included in the optimal model were further correlated with gene expression to explore potential functional implications. Validation using the Cancer Genome Atlas (TCGA) dataset, encompassing over 420 samples, yielded moderate predictive performance (AUC 0.63–0.71). Overall, our study identified a set of mtDNA variations capable of distinguishing HGSC with high accuracy, with MT-CYB gene variants notably increasing HGSC risk by over 30 percent and exhibiting significantly reduced expression in affected patients. These findings suggest that mtDNA-based predictive models could be integrated into liquid biopsy approaches for early detection of ovarian cancer, paralleling advances in other malignancies.
UR  - https://bprmcs.com/article/detection-of-ovarian-high-grade-serous-carcinoma-through-mitochondrial-gene-variation-bcm3yurts4mfryi
ER  -