Homologous recombination deficiency scar: mutations and beyond—implications for precision oncology

van der Wiel, A. M. A., Schuitmaker, L., Cong, Y., Theys, J., Van Hoeck, A., Vens, C., Lambin, P., Yaromina, A. and Dubois, L. J. (2022) Homologous recombination deficiency scar: mutations and beyond—implications for precision oncology. Cancers, 14(17), 4157. (doi: 10.3390/cancers14174157) (PMID:36077694) (PMCID:PMC9454578)

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 discusses and compares different methods of assessing HRD and HRD scar, their advances into the clinic, and their potential implications for precision oncology.

• Item Type: Articles
• Additional Information: This research was funded by ERC advanced grant HYPOXIMMUNO (ERC-ADG-2015, no. 694812).
• Keywords: Cancer, DNA repair, homologous recombination, homologous recombination deficiency, homologous recombination deficiency scar, biomarkers, precision oncology.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Vens, Dr Conchita

Creator Roles

Vens, C.: Writing – review and editing

• Authors: van der Wiel, A. M. A., Schuitmaker, L., Cong, Y., Theys, J., Van Hoeck, A., Vens, C., Lambin, P., Yaromina, A., and Dubois, L. J.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: Cancers
• Publisher: MDPI
• ISSN: 2072-6694
• ISSN (Online): 2072-6694
• Published Online: 27 August 2022
• Copyright Holders: Copyright © 2022 The Authors
• First Published: First published in Cancers 14(17): 4157
• Publisher Policy: Reproduced under a Creative Commons License