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Using next-generation sequencing (NGS) to profile tumor cells from patients with solid tumors, researchers at Fondazione Policlinico Universitario A. Gemelli IRCCS identified genetic alterations associated with cancer predisposition in 10% of the subjects examined. These alterations are also present in the patients' healthy cells; they contribute to tumor development and may be present in relatives.

These findings are the result of work conducted within the FPG500 program—an initiative backed by professor Giovanni Scambia, former scientific director of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, which started in 2022.

The research was carried out by Simona Duranti, Arianna Panfili and Camilla Nero, and coordinated by professor Maurizio Genuardi—professor of medical genetics at the Università Cattolica del Sacro Cuore—Dipartimento di Scienze della Vita e Salute Pubblica—and director of Unità Operativa Complessa di Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS.

This type of genomic analysis led to the identification of several patients with a hereditary cancer-predisposition syndrome; one-third of these cases would likely have gone undetected with standard diagnostic pathways. The study has just been published in the journal Genome Medicine.

The research involved genomic profiling of specific tumor types, using next-generation sequencing to analyze over 500 genes. In addition to detecting genetic variants acquired during a patient's lifetime—which promote tumor development and help guide the selection of the most effective therapeutic approach—the study also identified alterations suspected to be constitutional in nature.

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