Dr. Stadler on the Utility of Germline Profiling for Targeted Interventions in Advanced Cancer

Zsofia K. Stadler, MD, a medical oncologist at Memorial Sloan Kettering Cancer Center, discusses a study evaluating the clinical utility of germline mutation profiling of targeted therapeutic interventions in a pan-cancer patient population.

Tumor mutational profiling for acquired somatic mutations is paramount for the identification of genetic alterations that have implications for targeted treatment. Results from prior research have established that approximately 10% of patients with advanced cancer harbor somatic mutations that can be targeted with a therapeutic intervention, Stadler explains.

However, much less is known about the clinical utility of germline mutations in patients with advanced cancer. The identification of these alterations is important, as that knowledge can inform risk-reducing measures. For example, a patient with breast cancer whose tumor harbors a BRCA mutation may benefit from a risk-reducing oophorectomy. The detection of germline alterations is also important with regard to cascade testing, says Stadler. Much less is known about how these alterations can be used to select for targeted therapeutic interventions—especially in the advanced cancer setting.

To this end, Stadler and colleagues aimed to assess the clinical utility of germline mutation profiling in known cancer susceptibility genes for targeted therapeutic interventions in a pan-cancer patient population, Stadler concludes. Results from the research were presented at the 2020 ASCO Virtual Scientific Program.