Blood functional assay for rapid clinical interpretation of germline TP53 variants.

ABSTRACT:

Background

The interpretation of germline TP53 variants is critical to ensure appropriate medical management of patients with cancer and follow-up of variant carriers. This interpretation remains complex and is becoming a growing challenge considering the exponential increase in TP53 tests. We developed a functional assay directly performed on patients' blood.

Methods

Peripheral blood mononuclear cells were cultured, activated, exposed to doxorubicin and the p53-mediated transcriptional response was quantified using reverse transcription-multiplex ligation probe amplification and RT-QMPSF assays, including 10 p53 targets selected from transcriptome analysis, and two amplicons to measure p53 mRNA levels. We applied this blood functional assay to 77 patients addr

SUBMITTER: Raad S 

PROVIDER: S-EPMC8639931 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature