Identification of an <i>ERCC2</i> mutation associated mutational signature of nucleotide excision repair deficiency in targeted panel sequencing data.

ABSTRACT: Next generation sequencing based mutational signatures are frequently used to identify tumors with specific DNA repair deficiencies for targeted therapeutic strategies. Although mutational signatures are most commonly derived from whole exome (WES) or whole genome sequencing (WGS) data, more patients currently undergo tumor sequencing using more limited targeted panels that typically encompass several hundred cancer-associated genes. Identifying clinically relevant mutational signatures from targeted panel data requires new approaches capable of deriving signatures from the more limited sequencing data. Here, we derive and validate a panel sequencing-based composite mutational signature associated with nucleotide excision repair (NER) deficiency induced by inactivating ERCC2 mutatio

SUBMITTER: Stojkova O 

PROVIDER: S-EPMC12934613 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature