Intermediate
Technical
In the Industry Vocabulary Test
hotspot mutation
Genetic alteration occurring at a genomic position with high mutation frequency across multiple cancer samples.
Full Definition
A recurrent genetic alteration that occurs at specific nucleotide positions or codons with significantly higher frequency than would be expected by chance across cancer specimens. Hotspot mutations typically affect functionally critical regions of oncogenes or tumor suppressor genes and are often driver mutations that confer growth advantages to cancer cells. These mutations are prioritized in clinical testing panels due to their high clinical relevance and actionability for targeted therapies.
Usage
Usage note: Refers to position frequency, not necessarily functional impact; distinguish from driver mutations.
In Context
- "The EGFR exon 19 deletion represents a well-characterized hotspot mutation in lung adenocarcinoma." — Molecular pathology report
- "Clinical sequencing panels prioritize hotspot mutations due to their therapeutic relevance." — Laboratory testing description
Also known as
recurrent mutation
frequent mutation
Contrasted with
rare variant
private mutation
Don't confuse with
driver mutation
founder mutation