Mutational profile

Download signature plot Download signature in numerical form

Overview of the SV32 classification schema. The classification schema bins all SVs, apart from translocations, according to the size of the event in base pairs: 0–10kb, 10kb–100kb, 100kb–1Mb, 1Mb–10Mb, and >10Mb. Translocations, which may involve more than one chromosome, are not binned by size because they can be either balanced (where there is no net loss of genetic material on the chromosomes involved and thus the size can be described by one number) or unbalanced (where there is a net loss or gain of genetic material on the chromosomes involved and thus the sizes of the segments cannot be described by just one number). Note that whether a translocation is balanced or unbalanced is not considered in this classification schema. The different types of SVs are then further divided into clustered and non-clustered events to account for the non-random distribution of these events along the genome. Clustered events are defined as events that occur closer to each other on a chromosome than purely expected by chance.

Proposed aetiology

Unknown.

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
	Diaz-Gay et al. 2025 Nature		v3.5
Identification	NGS technique	Different variant callers	Multiple sequencing centres
	WGS	Yes	Yes
Technical validation	Validated in orthogonal techniques	Replicated in additional studies	Extended context enrichment
	Yes	No	-
Proposed aetiology	Mutational process		Support
	Unknown		Unknown
Experimental validation	Experimental study		Species
	-		-

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

Tissue distribution

Found in microsatellite stable (MSS) colorectal tumours.