Advancements in Focal Amplification Detection in Tumor/Liquid Biopsies and Emerging Clinical Applications.

ABSTRACT: Focal amplifications (FAs) are crucial in cancer research due to their significant diagnostic, prognostic, and therapeutic implications. FAs manifest in various forms, such as episomes, double minute chromosomes, and homogeneously staining regions, arising through different mechanisms and mainly contributing to cancer cell heterogeneity, the leading cause of drug resistance in therapy. Numerous wet-lab, mainly FISH, PCR-based assays, next-generation sequencing, and bioinformatics approaches have been set up to detect FAs, unravel the internal structure of amplicons, assess their chromatin compaction status, and investigate the transcriptional landscape associated with their occurrence in cancer cells. Most of them are tailored for tumor samples, even at the single-cell level. Conversely, v

SUBMITTER: Arshadi A 

PROVIDER: S-EPMC10298061 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature