Differential Sensitivity of Germline and Somatic Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.

Purpose: The introduction of PARP inhibitors (PARPis) as a treatment option for patients with high-grade serous ovarian cancer (HGSOC) modified the approach of testing worldwide. In this study, we aim to evaluate the impact of and variants on treatment response and survival outcomes in patients diagnosed in our institution.

Methods: A total of 805 HGSOC samples underwent and variant detection by using next-generation sequencing (NGS).

Detection of known and novel ALK fusion transcripts in lung cancer patients using next-generation sequencing approaches.

Rearrangements of the anaplastic lymphoma kinase (ALK) gene in non-small cell lung cancer (NSCLC) represent a novel molecular target in a small subset of tumors. Although ALK rearrangements are usually assessed by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH), molecular approaches have recently emerged as relevant alternatives in routine laboratories. Here, we evaluated the use of two different amplicon-based next-generation sequencing (NGS) methods (AmpliSeq and ArcherFusionPlex) to detect ALK rearrangements, and compared these with IHC and FISH.

Next-Generation Genotyping by Digital PCR to Detect and Quantify the BRAF V600E Mutation in Melanoma Biopsies.

The detection of the BRAF V600E mutation in melanoma samples is used to select patients who should respond to BRAF inhibitors. Different techniques are routinely used to determine BRAF status in clinical samples. However, low tumor cellularity and tumor heterogeneity can affect the sensitivity of somatic mutation detection.