Testing patients for certain pathogenic variants associated with increased cancer risk changed the management of those patients, with patients almost always following provider recommendations for cancer screening, according to a recent study.

The study looked at de-identified personal and family history data from 654 individuals with pathogenic variants in PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and/or RAD51D. Data were analyzed to quantify pretest and posttest candidacy for guideline-recommended management of cancer risk.

Among patients with CHEK2, ATM, PALB2, or NBN variants, only 24% were appropriate for consideration of annual breast magnetic resonance imaging (MRI) prior to genetic testing. The remaining 76% were only deemed appropriate candidates for MRI after testing.

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Similarly, no patients with BRIP1, RAD51C, or RAD51D variants would have been considered candidates for risk-reducing salpingo-oophorectomy (RRSO) prior to undergoing genetic testing.

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“No consensus management recommendations exist for individuals at average risk or increased risk for ovarian cancer based on family history; therefore, no individuals were deemed appropriate candidates for consideration of RRSO based on family history,” the researchers wrote. After testing, 100% of these individuals were appropriate candidates for RRSO.

Finally, on the basis of personal or family history, only 17% of 309 individuals with CHEK2 variants were considered appropriate for earlier and more frequent colonoscopy prior to genetic testing — the remaining 83% were only considered appropriate candidates after receiving genetic testing.

Candidates reported provider recommendations for risk-reducing screening from 42%, 26%, and 66% of providers for breast, ovarian, and colorectal cancer risk, respectively, prior to genetic testing compared with 82%, 79%, and 81%, respectively, after testing.

The researchers reported that “the majority of providers (79%-82%) recommended management aligned with clinical guidelines and that nearly all patients (97%-100%) adhered to their providers’ recommendation.”

“The data here show that testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D changes patient management strategies for those carrying PVs and better informs provider recommendations compared with risk assessment based on personal and family cancer history alone,” the researchers concluded.

Disclosure: This work was funded by Counsyl, Inc, now Myriad Women’s Health, and all authors are current or former employees of Myriad Genetics, Inc, Counsyl, Inc, and/or Myriad Women’s Health.


Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K. Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations [published online November 4, 2019]. Cancer. doi: 10.1002/cncr.32572