Study Identifies New Genomic Features Predicting Response to Immune Checkpoint Therapy

NEW YORK (GenomeWeb) – Researchers from the Dana-Farber Cancer Institute, Broad Institute, and elsewhere have identified new genomic features of tumors that respond to immune checkpoint therapy to supplement existing biomarkers, such as tumor mutational burden.

In a study published in Nature Genetics today, the team, led by Eliezer Van Allen at the Department of Medical Oncology at Dana-Farber, reported analyzing whole-exome sequencing data from 249 tumors and matched normal tissue from patients with known outcomes to immunotherapy.

“Our work advances hypotheses of biological mechanisms, suggests clinically relevant biomarkers, and highlights the importance of further, larger studies to reliably and robustly identify biomarkers of response and intrinsic resistance to immune checkpoint blockade,” the authors wrote.

Immune checkpoint inhibitors have been used successfully to treat many types of cancer but it has been difficult to predict which patients will respond to the treatment, both using immunohistochemistry assays and molecular tumor mutational burden tests.

While previous studies have suggested additional biomarkers as predictors of response — for example clonal mutations, alterations in specific genes or signaling pathways, or tumor aneuploidy — those studies focused on individual cancer types and had limited sample sizes.

“We hypothesized that an expanded and uniformly analyzed cohort

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