Prostate Cancer Patients With Germline Variants Were Often Not Covered by Testing Guidelines

Nearly 20 percent of men with prostate cancer harbor a germline variant that places them at increased risk of developing the disease, according to a new study, but a third of them were not eligible for genetic testing according to guidelines in place at the time.

Men with germline mutations in genes like BRCA1 or BRCA2 tend to develop prostate cancer at a younger age and have an increased risk of more aggressive disease. In their study, researchers from Invitae — which makes a prostate cancer genetic risk test, as do other firms like Ambry Genetics and Myriad Genetics — and Tulane University examined how often men with prostate cancer had germline variants that increased their risk of disease and whether these men had met guidelines for germline genetic testing.

As they reported today in JAMA Oncology, the researchers found that 37 percent of men with positive results did not meet the National Comprehensive Cancer Network guidelines for germline testing that were in place when the study took place. The guidelines have since been updated, though.


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