Homologous Recombination Deficiency Scar: Mutations and Beyond-Implications for Precision Oncology.

ABSTRACT: Homologous recombination deficiency (HRD) is a prevalent in approximately 17% of tumors and is associated with enhanced sensitivity to anticancer therapies inducing double-strand DNA breaks. Accurate detection of HRD would therefore allow improved patient selection and outcome of conventional and targeted anticancer therapies. However, current clinical assessment of HRD mainly relies on determining germline BRCA1/2 mutational status and is insufficient for adequate patient stratification as mechanisms of HRD occurrence extend beyond functional BRCA1/2 loss. HRD, regardless of BRCA1/2 status, is associated with specific forms of genomic and mutational signatures termed HRD scar. Detection of this HRD scar might therefore be a more reliable biomarker for HRD. This review discus

SUBMITTER: van der Wiel AMA 

PROVIDER: S-EPMC9454578 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature