SBS87 · · COSMIC v91

Mutational profile

Mutational profile using the conventional 96 mutation type classification. This classification is based on the six substitution subtypes: C>A, C>G, C>T, T>A, T>C, and T>G (all substitutions are referred to by the pyrimidine of the mutated Watson—Crick base pair). Show more

Further, each of the substitutions is examined by incorporating information on the bases immediately 5’ and 3’ to each mutated base generating 96 possible mutation types (6 types of substitution x 4 types of 5’ base x 4 types of 3’ base). Mutational signatures are displayed and reported based on the observed trinucleotide frequency of the human genome, i.e., representing the relative proportions of mutations generated by each signature based on the actual trinucleotide frequencies of the reference human genome version GRCh37.

Proposed aetiology

Thiopurine chemotherapy treatment, experimentally validated.

Tissue distribution

Found in relapsed acute lymphoblastic leukaemia (ALL) patients.

Associated signatures

Found in combination with SBS86 in some relapsed ALL patients. Associated with increased CG>NN doublet base substitutions.