Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants
Germline genetic screening can identify whether a patient with cancer has inherited genetic alterations in a gene or genes that are implicated in cancer. These inherited genetic alterations, known as germline pathogenic variants, can cause predispositions to cancer in people who carry them. Germline pathogenic variants can be used to flag cancer risk in patients' family members, and the presence…
A study published in Cancer Discovery has found that age-based genetic testing for cancer patients may overlook the majority of inherited gene variants. Dr. Zsofia K. Stadler, co-corresponding author of the study and clinical director of the Clinical Genetics Service at Memorial Sloan Kettering Cancer Center, explained that age is often used as a gatekeeper for genetic testing, assuming that patients with early-onset cancers are more likely to have inherited pathogenic variants.
However, the research team hypothesized that universal germline genetic testing would provide valuable insights into all patients, regardless of age, potentially leading to more testing for family members who may also carry hereditary cancer risk. The researchers performed germline genetic testing in 39,184 patients with solid tumors, regardless of age, using the MSK-IMPACT assay.
They found that 16.3% of all patients harbored at least one germline pathogenic variant. If testing had been limited to patients under 50, as is the typical age cutoff for germline genetic sequencing, the researchers would have excluded 4,601 patients with pathogenic variants, which accounted for 72% of all patients with pathogenic variants.
The prevalence of pathogenic variants varied across early-, average- and late-onset cancers, with early-onset cancers having the highest prevalence. High-penetrance and moderate-penetrance pathogenic variants were also more common in early-onset cancers. The study suggests that a uniform cutoff for genetic screening at age 50 is insufficient and that universal germline genetic testing should be considered for every patient diagnosed with cancer, regardless of age.
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