Allele-informed copy number evaluation of plasma DNA samples from metastatic prostate cancer patients: the PCF_SELECT consortium assay.
- Abstract:
- Sequencing of cell-free DNA (cfDNA) in cancer patients' plasma offers a minimally-invasive solution to detect tumor cell genomic alterations to aid real-time clinical decision-making. The reliability of copy number detection decreases at lower cfDNA tumor fractions, limiting utility at earlier stages of the disease. To test a novel strategy for detection of allelic imbalance, we developed a prostate cancer bespoke assay, PCF_SELECT, that includes an innovative sequencing panel covering ∼25 000 high minor allele frequency SNPs and tailored analytical solutions to enable allele-informed evaluation. First, we assessed it on plasma samples from 50 advanced prostate cancer patients. We then confirmed improved detection of genomic alterations in samples with
- Authors:
- F Orlando, A Romanel, B Trujillo, M Sigouros, D Wetterskog, O Quaini, G Leone, JZ Xiang, A Wingate, S Tagawa, A Jayaram, M Linch, PEACE Consortium, M Jamal-Hanjani, C Swanton, MA Rubin, AW Wyatt, H Beltran, G Attard, F Demichelis
- Journal:
- NAR Cancer
- Citation info:
- 4(2):zcac016
- Publication date:
- 1st Jun 2022
- Full text
- DOI