The ARIEL2 study assessed the ability of tumour genomic LOH, quantified with a next-generation sequencing assay, to predict response to rucaparib, an oral PARP inhibitor.

In this review, the role of somatic BRCA mutations and BRCA methylation in ovarian cancer is discussed alongside the challenges that need to be addressed if the full potential of these markers of HRD is to be utilised in clinical practice.

This study demonstrates the importance of both tissue and blood based hybrid-capture based genomic profiling at disease progression to identifying novel resistance mechanisms in the clinic.

Using retrospective analysis, this study found that patients with high tumor mutational burden (TMB) had better outcomes compared to patients with lower TMB.

Emergence of the preexisting MET Y1230C likely confers resistance to crizotinib in this case of METex14-positive NSCLC. Existence of pretreatment MET Y1230C may eventually modulate the response of METex14-positive NSCLC to type I MET tyrosine kinase inhibitors. Noninvasive plasma-based ctDNA assays can provide a convenient method to detect resistance mutations in patients with previously known driver mutations.

An assay’s validation offers insight into the quality of its laboratory performance and its ability to confidently detect genomic variants at various frequency levels. In this validation study, 2,666 reference alterations were utilized to evaluate the FoundationACT liquid biopsy assay against multiple orthogonal methods, including matched tissue with FoundationOne®, achieving high sensitivity in detecting genomic alterations even at low mutant allele frequencies (MAF>0.25%) often observed in clinical samples.

NGS identifies alterations that may be pharmacologically tractable in most patients with lymphoid malignancies, albeit with drugs that have usually been developed in the context of solid tumors.

In this study, the clinical utility of CGP to characterize previously undescribed activating fusion genes, in conjunction with childhood B- or T-ALL, and describe responses to TKIs is reported.

In this case study, we describe a novel PDGFRB rearrangement, TBL1XR1–PDGFRB, in a patient with AML with recurrent genetic abnormality.

These data emphasize the importance of genomic profiling of PDX and patient samples to ensure concordance before performing mechanistic or therapeutic studies.