tumor genomic profile
A comprehensive molecular characterization of a cancer specimen documenting genetic alterations including mutations, copy number changes, and structural variants.
Full Definition
A tumor genomic profile represents the complete molecular fingerprint of a cancer specimen, encompassing all detectable genetic alterations such as single nucleotide variants, insertions/deletions, copy number alterations, and chromosomal rearrangements. This profile serves as the foundation for precision oncology treatment decisions and is typically generated through comprehensive genomic sequencing platforms. The profile includes both driver mutations that contribute to cancer development and passenger mutations that occur during tumor evolution but may not directly impact cancer biology.
Usage
Usage note: Distinguish from 'tumor mutational burden' which refers specifically to mutation count rather than the complete molecular characterization.
In Context
- "The tumor genomic profile revealed multiple targetable alterations including EGFR amplification and PIK3CA mutation." — Pathology report
- "Comparative analysis of tumor genomic profiles from primary and metastatic sites showed acquisition of resistance mutations." — Research publication