Document Type
Journal Article
Publication Title
Scientific Reports
Volume
13
Issue
1
PubMed ID
36609632
Publisher
Nature
School
Centre for Precision Health / School of Medical and Health Sciences
RAS ID
53021
Funders
Cancer Council Western Australia Fellowship
Abstract
Plasma circulating tumour DNA (ctDNA) has been suggested to be a viable biomarker of response to treatment in patients with high grade serous ovarian carcinoma (HGSOC). TP53 mutations are present in more than 90 % of HGSOCs but somatic variants are distributed across all exonic regions of the gene, requiring next generation sequencing (NGS) technologies for mutational analysis. In this study, we compared the suitability of the Accel (Swift) and Oncomine (ThermoFisher) panels for identification of TP53 mutations in ctDNA of HGSOC patients (N = 10). Only 6 patients (60 %) were found to have TP53 mutations using the ACCEL panel but the addition of molecular tags in the Oncomine panel improved ctDNA detection with at least one mutation detected in all cases (100 %). Orthogonal validation of the 14 somatic variants found by Oncomine, using droplet digital PCR, confirmed 79 % (11/14) of the identified mutations. Overall, the Oncomine panel with unique molecular identifiers (UMI) appears more useful for ctDNA analysis in HGSOC.
DOI
10.1038/s41598-023-27445-2
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
Comments
Calapre, L., Giardina, T., Beasley, A. B., Reid, A. L., Stewart, C., Amanuel, B., ... & Gray, E. S. (2023). Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies. Scientific Reports, 13, Article 278. https://doi.org/10.1038/s41598-023-27445-2