hotspot mutation
A genetic alteration occurring at a genomic position with high mutation frequency across multiple cancer types or patients.
Full Definition
Hotspot mutations represent recurrently mutated positions in the genome that are frequently altered in cancer. These mutations often occur in critical functional domains of oncogenes or tumor suppressor genes and are typically targeted by focused sequencing panels due to their clinical significance. In oncology informatics, hotspot regions are prioritized in variant calling algorithms and quality control metrics. Editorial teams encounter this term in molecular pathology reports, clinical trial protocols, and precision oncology guidelines.
Usage
Usage note: Hyphenate as compound modifier; use as two words when functioning as a noun phrase.
In Context
- "The targeted sequencing panel focuses on 50 known hotspot mutations in actionable cancer genes." — Laboratory test description
- "EGFR exon 19 deletions represent classic hotspot mutations in non-small cell lung cancer." — Clinical guidelines document