Homologous Recombination Deficiency Testing for BRCA-Like Tumors: The Road to Clinical Validation.

Germline mutations result in homologous recombination deficiency (HRD) in hereditary breast and ovarian cancer, as well as several types of sporadic tumors. The HRD phenotype makes these tumors sensitive to DNA double strand break-inducing agents, including poly-(ADP-ribose)-polymerase (PARP) inhibitors. Interestingly, a subgroup of cancers without a mutation also shows an HRD phenotype. Various methods for selecting patients with HRD tumors beyond -mutations have been explored. These methods are mainly based on DNA sequencing or functional characteristics of the tumor. We here discuss the various tests and the status of their clinical validation.