Clinical experience with comprehensive genomic profiling in patients with hereditary tumors: comprehensive genomic profile-based therapy and management of relatives

Abstract

　The medical records of patients with cancer who underwent comprehensive genomic profile (CGP) testing and relatives of patients with hereditary tumors between January 2020 and February 2023, totaling 238 patients (98 women and 140 men), were reviewed. Using tissue-only sequencing and paired tissue-normal sequencing, 204 and 34 cancers were tested, respectively. Six patients were diagnosed with hereditary tumors before the CGP testing. The germline findings of paired tissue-normal sequencing or confirmatory germline testing after tissue-only sequencing identified four patients with pathogenic variants. In total, 10 patients had hereditary tumors. A total of 17/213 patients (8.0%) with sporadic tumors and 2/10 patients (20%) with hereditary tumors received CGP-based treatment (p = 0.21). Among the relatives of the patients with hereditary tumors diagnosed after the CGP testing, five relatives from two families received germline testing; three of them had BRCA2 pathogenic variants.