Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies

被引：11

作者：

Calapre, Leslie ^{[1
]}

Giardina, Tindaro ^{[2
]}

Beasley, Aaron B. B. ^{[1
,3
]}

Reid, Anna L. L. ^{[1
,3
]}

Stewart, Colin ^{[2
,4
]}

Amanuel, Benhur ^{[1
,2
,4
]}

Meniawy, Tarek M. M. ^{[1
,4
,5
]}

Gray, Elin S. S. ^{[1
,2
]}

机构：

[1] Edith Cowan Univ, Sch Med & Hlth Sci, Joondalup, WA, Australia

[2] QEII Med Ctr, PathWest Lab Med, Anat Pathol, Nedlands, WA, Australia

[3] Edith Cowan Univ, Ctr Precis Hlth, Joondalup, WA, Australia

[4] Univ Western Australia, Med Sch, Crawley, WA, Australia

[5] Sir Charles Gairdner Hosp, Dept Med Oncol, Nedlands, WA, Australia

来源：

SCIENTIFIC REPORTS | 2023年 / 13卷 / 01期

关键词：

GUIDELINES;

D O I：

10.1038/s41598-023-27445-2

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：7

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