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

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

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

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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