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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 of certain germline pathogenic variants can also potentially guide patients' treatments.

However, germline screening is typically performed on patients with cancer who are younger than 50, explained Zsofia K. Stadler, M.D., a co-corresponding author of a study appearing in Cancer Discovery and clinical director of the Clinical Genetics Service at Memorial Sloan Kettering Cancer Center.

She said that the logic for the age cutoff in germline screening is the assumption that patients with average- or late-onset cancers are less likely to have cancers caused by inherited pathogenic variants than patients with early-onset cancers.

"The current standard practice is, in many ways, a gatekeeper for genetic testing. Our study aimed to assess how much inherited cancer risk we miss when we rely too heavily on age at diagnosis," said Stadler.

"As opposed to using an arbitrary cutoff such as age 50, we hypothesized that universal germline genetic testing would give us valuable insight into all patients regardless of age and potentially facilitate more testing for patients' family members who may also carry hereditary cancer risk."

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