A new study has found that genetically analyzing tumors could identify the inherited cancer risks that standard testing might miss, potentially allowing doctors to warn and screen a patient's relatives earlier on. The study, published in Genome Medicine, analyzed tumors from nearly 2,700 patients with solid cancers and found that about one in 10 carried inherited genetic alterations associated with an increased risk of cancer. The Italy-based researchers also found that roughly one-third of patients identified as having "a hereditary cancer-predisposition syndrome" could likely have been missed or not flagged under standard diagnostic pathways.
Professor David Adler, chief scientific and medical officer at the PATHORA Institute of Pathology & Tissue Medicine in Germany, told Newsweek the findings could have implications beyond the individual being treated for cancer at present. "This matters because inherited cancer risks can affect entire families," Adler said. "If further testing confirms that a patient carries one of these genetic changes, their relatives could also be tested.
Those found to be at increased risk could receive earlier or more frequent cancer screening, potentially detecting cancer at a stage when it is easier to treat. "The key message is that genetic testing in someone who already has cancer could also help protect their family members." The research was conducted as part of the FPG500 program at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy, an initiative launched in 2022 with the backing of Professor Giovanni Scambia, the foundation's former scientific director.
The study had enrolled 2,674 patients with solid tumors for whom molecular testing had been requested. During the program's first two years, from January 2022 to December 2023, approximately 2,700 samples were analyzed, predominantly from patients with gynecological cancers, with researchers specifying endometrial and ovarian cancers. Researchers then used next-generation sequencing, or NGS, to examine more than 500 genes.
Such tumor profiling can identify the genetic variants acquired during a person's lifetime that help drive cancer development and can inform treatment decisions. However, the researchers also looked for alterations suspected to be constitutional, or germline, meaning they are present from birth throughout the body's cells and importantly, can be inherited. Germline testing ended up confirming cancer-predisposing variants in approximately 10 percent of the patients reviewed.
Of these variants, 16 percent occurred in genes not normally associated with the patient's particular cancer and therefore would not have been identified under current clinical guidelines. Another 20 percent involved genes associated with "moderate cancer risk," which current genetic-testing guidelines generally do not require to be routinely examined. Following their assessments, the researchers said standard pathways could likely have missed around one-third of patients with a hereditary cancer-predisposition syndrome.
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