Articles related to GENOMICS

The KRASG12C mutation was more prevalent in females and older patients and appeared to be associated with smoking status. KRASG12C tumors exhibited a distinct co-mutation profile and were associated with tumor mutational burden-high status.

Adagrasib 600 mg twice a day was well tolerated and exhibited antitumor activity in patients with advanced solid tumors harboring the KRASG12C mutation.

In this case-control registry study of 63,828 patients with 14 common cancer types and 37,086 controls, pathogenic variants in BRCA1 were associated with biliary tract cancer, BRCA2 was associated with esophageal cancer, and combined BRCA1/2, with gastric cancer.

This international consortium of oncologists and researcher describe the advantages and limitations of both conventional chromosome banding and novel sequencing technologies. They state, “While one single test may not replace the totality of tests that currently exist, the active exploration and adoption of novel approaches in defined clinical settings may indeed allow for a continued and controlled evolution resulting in the successful clinical implementation of whole genome sequencing in the near future.”

The interpretation of genomic sequencing data is complex. Not all tumors have alterations within therapeutically targetable or actionable genes, and not all alterations detected within a therapeutically actionable gene may confer sensitivity to genomic biomarker–linked therapies. ASCO’s expert panel provides a provisional opinion, giving guidance on using genomic sequencing to inform treatment selection for patients with metastatic or advanced solid tumors.

To define the spectrum of alterations common at relapse, the researchers in this study performed integrated profiling of 136 relapsed pediatric AML cases with RNA sequencing (RNA-seq), whole-genome sequencing, and target-capture sequencing. In addition, well-characterized fusion oncoproteins were identified, as were somatic mutations in UBTF (upstream binding transcription factor). See the results from the late-breaking abstract being presented at the ASH Annual Meeting & Exhibition.