Multi-scale characterisation of homologous recombination deficiency in breast cancer.

ABSTRACT:

Background

Homologous recombination is a robust, broadly error-free mechanism of double-strand break repair, and deficiencies lead to PARP inhibitor sensitivity. Patients displaying homologous recombination deficiency can be identified using 'mutational signatures'. However, these patterns are difficult to reliably infer from exome sequencing. Additionally, as mutational signatures are a historical record of mutagenic processes, this limits their utility in describing the current status of a tumour.

Methods

We apply two methods for characterising homologous recombination deficiency in breast cancer to explore the features and heterogeneity associated with this phenotype. We develop a likelihood-based method which leverages small insertions and deletions for high-confidence c

SUBMITTER: Jacobson DH 

PROVIDER: S-EPMC10621207 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature