THURSDAY, Oct. 15, 2026 (HealthDay News) -- Universal germline testing identifies pathogenic variants in patients with early-, average-, and late-onset cancer across 32 solid tumor types, according to a study published online Oct. 8 in Cancer Discovery.
Zsofia K. Stadler, M.D., from Memorial Sloan Kettering Cancer Center in New York City, and colleagues performed germline sequencing of 39,184 unselected patients with solid malignancies spanning 32 tumor types. They examined more than 90 cancer predisposition genes independent of clinical suspicion. Based on standard deviations from tumor-specific mean age at diagnosis, patients were stratified into early-, average-, and late-onset groups.
The researchers found an inverse correlation for pathogenic variant prevalence with age at diagnosis: 18.4, 15.6, and 12.3 percent in early-, average-, and late-onset tumors, respectively. The enrichment in early-onset cases was accounted for by variants in high/moderate penetrance genes (12.4, 8.9, and 5.1 percent in early-, average-, and late-onset tumors, respectively). Restricting hereditary cancer testing to patients diagnosed before age 50 years would miss 4,601 pathogenic variant carriers, comprising 72 percent of all variants that were detected.
"Hereditary cancer can occur at any age, and we should move toward a new standard in which genetic testing is considered for every patient diagnosed with cancer, regardless of age," coauthor Luis A. Diaz Jr., M.D., from Memorial Sloan Kettering Cancer Center, said in a statement. "Our manuscript shows that relying on age at diagnosis misses a substantial proportion of patients with germline pathogenic variants and provides strong support for moving toward universal germline genetic testing in patients with cancer."
Several authors disclosed ties to the pharmaceutical and biotechnology industries.
