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The study included a cohort of patients with mesothelioma enrolled in the Copenhagen Prospective Personalized Oncology (CoPPO) study (NCT02290522) from January 2014 to December 2021. Data from 44 patients with mesothelioma was included. Out of these 36% were found to carry pathogenic or likely pathogenic variants and 9% had potential actionable targets. By looking into the genomic profiles of these patients, a high frequency of germline pathogenic variants was revealed including two variants not previously associated with mesothelioma. The data support germline testing in mesothelioma and provide a rationale for additional investigation to identify potential actionable targets.

Mesothelioma is a rare aggressive cancer, typically diagnosed at a late stage of the disease, with median survival being approximately one year from diagnosis. Mesothelioma is mainly caused by inhalation of asbestos but despite asbestos ban in the western world, the anticipated decrease in mesothelioma rate has been lower than predicted. Accumulating evidence during the last decade has supported a genetic susceptibility to the development of mesothelioma and identified germline pathogenic variants in mesothelioma. 

Genomic profiles as a clinical tool

In the Phase 1 Unit we have more than 3500 genomic profiles from patients included in the Copenhagen Prospective Personalized Oncology (CoPPO) study (NCT02290522). The CoPPO study aims to investigate the clinical utility of molecular profiling to select patients for phase 1 trials.

Genomic profiling is an important tool allowing targeted treatment for patients with actionable targets. The use of molecular profiling in the Phase 1 Unit to select patients for clinical trials highlights the importance of personalized medicine and the potential benefits of using genomic information to guide treatment decisions. Overall, this research has important implications for the diagnosis, treatment, and prevention of mesothelioma and other cancers associated with germline pathogenic variants.

For more information read the full article here 

Laïla Belcaid et al. New pathogenic germline variants identified in mesothelioma, Lung Cancer, 2023, Vol. 179:107172, 10.1016/j.lungcan.2023.03.008