Abstract 1199P
Background
Homologous recombination repair (HRR) genes play a critical role in tumor DNA damage repair. Loss-of function HRR alternation, including SNV/Indel and homozygous deletion (HD), could predict sensitivity of poly ADP-ribose polymerase (PARP) inhibitor. Therefore, developing a comprehensive and reliable HRR detection approach is necessary.
Methods
In this study, prostate samples (cancer tissue specimens and cell lines) carrying HRR SNV/Indel/HD alterations or wild-type genomes were used to assess the performance of a Next Generation Sequencing (NGS) kit (AmoyDx HRD Complete Panel) for the SNV/Indel/HD detection, which covers 17 HRR genes and 3 tumor-associated genes. The AmoyDx master panel was used as a reference test.
Results
Of the 102 prostate cancer samples (including 19 BRCA1/2 SNV/indel-positive samples and 1 BRCA2 HD-positive sample), positive percent agreement (PPA), negative percent agreement (NPA), and overall percent agreement (OPA) of the two NGS kits for BRCA1/2 detection were all 100%. 8 SNV/Indel-positive samples were constructed into 576 reactions that were validated by gradient dilution and repetition. The limit of detection (LOD) criterion for SNV/Indel were ≥ 5% and the amount of DNA input was 30 ng. Detection sensitivity for HD at the exon level was 100% when tumor purity was greater than 40% and DNA input was 100ng. For gene level HD, tumor purity ≥ 30% was required. 8 SNV/Indel/HD positive or negative (4 SVN/Indel positive, 2 HD positive, 2 SNV/Indel/HD negative) samples were tested repeatedly with different batches of reagents in different time periods. The coefficient of variance (CV) of positive samples was less than 10%, and the negative samples were all negative for repeat testing. In the presence of hemoglobin, triglyceride, and paclitaxel during the extraction process, or ethanol (found in DNA samples), xylene, or proteinase K during the DNA addition, the OPA of testing samples was 100% compared to the reference.
Conclusions
This study demonstrated that Amoydx human homologous recombination repair gene panel exhibited high concordance with AmoyDx master panel and could provide reliable HRR SNV/Indel/HD detection.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
X. Lin, Y. Guo, P. Cheng, Z. Huang, C. Zhu: Financial Interests, Institutional, Full or part-time Employment: Amoy Diagnostics Co., Ltd. All other authors have declared no conflicts of interest.
Resources from the same session
1502P - Sexual dysfunction and quality of life in rectal cancer
Presenter: Fatih Kus
Session: Poster session 10
1503P - Spiritual needs in cancer patients: A cross-sectional study
Presenter: Diego Toloi
Session: Poster session 10
1546P - Use of ESMO-MCBS Scorecards in supporting funding decisions in private insurance
Presenter: Samantha Field
Session: Poster session 10
1547P - Time from approval to reimbursement of new cancer and non-cancer drugs: A comparative analysis between the US, England, Germany, and Switzerland (2011-2022)
Presenter: Camille Glaus
Session: Poster session 10
1548P - Real-world impact of the platinum chemotherapy shortage on advanced cancer patients
Presenter: Jacob Reibel
Session: Poster session 10
1549P - Accelerating access to innovative oncology drugs: Insights from France's early access reform
Presenter: Tess Martin
Session: Poster session 10
1550P - Addressing uncertainties of clinical value and improving access for newly authorised indications through DRUG-Access Protocol (DAP)-like platforms: Joint collection and evaluation of real-world evidence
Presenter: Sahar van Waalwijk van Doorn-Khosrovani
Session: Poster session 10
1551P - Breakthrough therapy cancer drugs and indications with FDA approval: Development time, innovation, trials, clinical benefit, epidemiology, and price
Presenter: Christoph Michaeli
Session: Poster session 10
1552P - Regulatory approval of novel immunotherapy for lymphoid neoplasm in the US, EU, and Japan
Presenter: Kensuke Matsuda
Session: Poster session 10
1553P - Access to EMA approved drugs in Europe, disparities across a border
Presenter: Orla Fitzpatrick
Session: Poster session 10