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Genomic Characterization of Chordoma: Insights from the AACR Project GENIE Database

Simple Summary Chordoma is a rare, slow-growing tumor arising from remnants of the embryonic notochord. This study investigates genomic alterations in chordoma using a large national patient-level repository, the AACR… Click to show full abstract

Simple Summary Chordoma is a rare, slow-growing tumor arising from remnants of the embryonic notochord. This study investigates genomic alterations in chordoma using a large national patient-level repository, the AACR Project GENIE. The goal was to identify mutations in key genes such as PBRM1, ARID1A, TERT, and TP53, which may influence tumor behavior, treatment response, and clinical outcomes. These findings contribute to an improved understanding of chordoma biology, highlighting potential biomarkers and therapeutic targets.

Keywords: characterization chordoma; genomic characterization; project genie; aacr project

Journal Title: Cancers
Year Published: 2025

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