Mutational profile

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Mutational profile using 192-channels. This classification is defined by using the 192-channel for the tri-nucleotide context of every possible point nucleotide change on an RNA molecule. Because RNA molecules are single-stranded, we can infer the exact nucleotide change, thus resulting in the 192 channel, unlike DNA single base substitutions, where the strandedness of the nucleotide change cannot always be inferred.

Proposed aetiology

Consisted mainly of C>T transitions at TpC sites relating to RNA editing activity of APOBEC3A.

Acceptance criteria

Supporting evidence for mutational signature validity

Validated evidence for real signature

Unclear evidence for real signature

Evidence for artefact signature

Background	Identification study		First included in COSMIC
	Martinez-Ruiz et al. 2023 Nature		v3.4
Identification	NGS technique	Different variant callers	Multiple sequencing centres
	RNA-seq/WES	No	No
Technical validation	Validated in orthogonal techniques	Replicated in additional studies	Extended context enrichment
	Yes	No	-
Proposed aetiology	Mutational process		Support
	RNA editing activity of APOBEC3A		Statistical association
Experimental validation	Experimental study		Species
	Fixman et al. 2024 JMB		Human

Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.

Tissue distribution

Found in non-small cell lung cancer (NSCLC) tumours from patients in the TRACERx study.