Cosmic signature SBS39 is associated with homologous recombination deficiency

Yuan-Chun Ding; Shu Tao; Allen Mao; Elad Ziv; Susan L. Neuhausen

doi:10.1101/2024.10.23.24316019

Genetic & Genomic MedicinemedRxivOct 23, 2024

Preprint

Cosmic signature SBS39 is associated with homologous recombination deficiency

Yuan-Chun Ding, Shu Tao iD, Allen Mao iD, Elad Ziv iD, Susan L. Neuhausen iD

Abstract

Cosmic single-base-substitution mutational signature 3 (SBS3) is associated with hereditary and somatic mutations in genes involved in homologous recombination deficiency (HRD) and predicts response to PARPi. The COSMIC database was updated from 30 SBS signatures in version 2.0 (V2.0) to 86 SBS signatures in Version 3.4 (V3.4). We found that SBS3 in V3.4 was poorly associated and SBS39 was strongly associated with germline and somatic mutations in HRD genes and should be classified as an HRD signature.

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