StemCell Therapy

Testingpatients for certain pathogenic variants associated with increased cancer riskchanged the management of those patients, with patients almost always followingprovider recommendations for cancer screening, according to a recent study.

The studylooked at de-identified personal and family history data from 654 individualswith pathogenic variants in PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and/orRAD51D. Data were analyzed to quantify pretest and posttest candidacyfor guideline-recommended management of cancer risk.

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

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

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, onthe basis of personal or family history, only 17% of 309 individuals with CHEK2variants were considered appropriate for earlier and more frequent colonoscopyprior to genetic testing the remaining 83% were only considered appropriatecandidates after receiving genetic testing.

Read more here:
Testing for Genetic Variants Informed the Use of Cancer Risk Assessments - Cancer Therapy Advisor

This entry was posted on November 27, 2019 at 6:42 pm and is filed under Genetics. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |