Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.

ABSTRACT:

Background

Systematic cancer screening has led to the increased detection of pre-malignant lesions (PMLs). The absence of reliable prognostic markers has led mostly to over treatment resulting in potentially unnecessary stress, or insufficient treatment and avoidable progression. Importantly, most mutational profiling studies have relied on PML synchronous to invasive cancer, or performed in patients without outcome information, hence limiting their utility for biomarker discovery. The limitations in comprehensive mutational profiling of PMLs are in large part due to the significant technical and methodological challenges: most PML specimens are small, fixed in formalin and paraffin embedded (FFPE) and lack matching normal DNA.

Methods

Using test DNA from a highly degraded F

SUBMITTER: Nachmanson D 

PROVIDER: S-EPMC7672910 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature