Researchers report genomic profiling from more than 110,000 tumors

Researchers report genomic profiling from more than 110,000 tumors AACR DukeHealth Sagebio DanaFarber VUMChealth genome tumor cancer genetics genome

By Tarun Sai LomteJul 19 2022Reviewed by Danielle Ellis, B.Sc. In a recent study published in Cancer Discovery, researchers analyzed data from the latest public release of the genomics evidence neoplasia information exchange project of the American Association for Cancer Research .

The study and findings In the present study, researchers analyzed data from more than 110,000 tumors. The project has grown from over 18,800 samples in the first release to 110,704 in the latest release. In the 9.1 release, more than half of the specimens were primary tumors, 32% were metastases, and the remaining were local recurrences, hematologic malignancies, or unknown.

Related StoriesThe authors mapped mutations to variant interpretations from OncoKB, an oncology knowledge base, to compute the frequency of clinically actionable alterations in the current dataset of GENIE. They noted that tumors with level 1 or 2 alterations increased to 17%, more than a two-fold increase relative to the previous estimates from 2017.

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