# MutSig (significantly mutated gene detection)

Source: https://onco.cc/terms/mutsig/  
OnCo record `mutsig` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

MutSig asks which genes are mutated more often than the background mutation rate would predict, separating likely drivers from long or late-replicating genes that collect passengers.

## Summary

Lawrence and colleagues showed that mutation rates vary enormously between patients and across the genome (with expression level and replication timing) and that ignoring this heterogeneity produces spurious driver genes; MutSigCV corrects for it using patient-specific rates and gene covariates. It became the standard driver test in TCGA marker papers alongside GISTIC for copy number. Like GISTIC it is distributed under a Broad research licence rather than an open repository.

## Fields

- Kind: Term
- Last checked: 2026-09-24
- Also known as: MutSig; MutSigCV; MutSig2CV; significantly mutated genes; SMG analysis
- Tags: cansim-terms

## Notes

- Listed in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme; CanSim page path /terms/mutsig.

## Sources

- Lawrence et al., Mutational heterogeneity in cancer and the search for new cancer-associated genes (Nature 2013): https://doi.org/10.1038/nature12213

## Connected records

- collections: [IntOGen](https://onco.cc/collections/intogen/)
- terms: [Cancer AI vocabulary (CanSim terms map)](https://onco.cc/terms/cancer-ai-vocabulary/), [Driver mutation](https://onco.cc/terms/driver-mutation/), [GISTIC (copy number driver detection)](https://onco.cc/terms/gistic/), [Variant calling](https://onco.cc/terms/variant-calling/)

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JSON: https://onco.cc/api/v1/entities/mutsig.json