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Using age 50 as the cutoff for germline genetic testing misses nearly three-quarters of cancer patients with inherited risk variants, a major new study finds. Researchers analyzed nearly 40,000 solid tumor patients and found pathogenic variants were common even in older patients. Experts are now calling for universal germline testing for all cancer diagnoses, regardless of age.
A large study published in Cancer Discovery is challenging one of oncology's long-standing assumptions: that inherited cancer risk is mainly a young person's problem. Researchers at Memorial Sloan Kettering Cancer Center sequenced germline DNA from 39,184 patients with solid tumors and found that restricting genetic testing to those diagnosed before age 50 would miss 72% of all pathogenic variant carriers — including 68% of those with moderate- or high-penetrance variants that significantly elevate lifetime cancer risk.
Overall, 16.3% of patients harbored a germline pathogenic variant, and nearly 10% carried one in a high- or moderate-penetrance gene. Even among patients with late-onset cancers (average diagnosis age: 81), about 5% carried clinically significant variants — a finding that underscores how broadly inherited risk is distributed across age groups.
By the Numbers:
Why it matters: Identifying a pathogenic variant doesn't just affect the patient — it can trigger cascade testing for family members who haven't yet developed cancer but may be at elevated risk. Experts say integrating germline testing directly into oncology practice, rather than relying on genetics referrals, is key to closing this gap.
