Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.

Fiche publication


Date publication

février 2023

Journal

Cancers

Auteurs

Membres identifiés du Cancéropôle Est :
Dr ARNOULD Laurent, Dr BOIDOT Romain, Pr GHIRINGHELLI François, Dr LADOIRE Sylvain, Mme TRUNTZER Caroline, Dr DESMOULINS Isabelle, Dr HENNEQUIN Audrey, Dr MAYEUR Didier


Tous les auteurs :
Galland L, Roussot N, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Reda M, Albuisson J, Arnould L, Boidot R, Truntzer C, Ghiringhelli F, Ladoire S

Résumé

Breast cancer is the most frequently occurring cancer worldwide. With its increasing incidence, it is a major public health problem, with many therapeutic challenges such as precision medicine for personalized treatment. Thanks to next-generation sequencing (NGS), progress in biomedical technologies, and the use of bioinformatics, it is now possible to identify specific molecular alterations in tumor cells-such as homologous recombination deficiencies (HRD)-enabling us to consider using DNA-damaging agents such as platinum salts or PARP inhibitors. Different approaches currently exist to analyze impairment of the homologous recombination pathway, e.g., the search for specific mutations in homologous recombination repair (HRR) genes, such as /; the use of genomic scars or mutational signatures; or the development of functional tests. Nevertheless, the role and value of these different tests in breast cancer treatment decisions remains to be clarified. In this review, we summarize current knowledge on the clinical utility of genomic tests, evaluating HRR deficiency for treatment decisions in early and metastatic breast cancer.

Mots clés

BRCA, HRD score, NGS, PARPi, breast cancer, early breast cancer, homologous recombination deficiency, metastatic breast cancer, mutational signature, platinum salts

Référence

Cancers (Basel). 2023 02 18;15(4):