Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group.

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1539 Background: Advances in massively parallel sequencing technologies have made multigene panels affordable and have revolutionized genetic testing for hereditary breast and ovarian cancer. Through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, we conducted a survey regarding non-BRCA1/2 genes to assess international testing practices and risk management approaches for breast cancer (BC) and ovarian cancer (OC) susceptibility. Methods: Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the UK and in Italy. Results: Responses from 61 cancer genetics centers across 20 countries showed that 16 genes were tested by more than 50% of the centers, but only 6, PALB2, TP53, PTEN, CHEK2, ATM, and BRIP1, were tested regularly. US-based centers tested those genes most often, while UK and Italian centers (not directly affiliated with ENIGMA at the time of the survey) were the least likely to regularly test them. Most centers tested the 16 genes through multigene panels; some centers tested TP53, PTEN and other cancer syndrome-associated genes individually. The majority of centers reported pathogenic variants to patients and would test family members for such variants. Gene-specific guidelines for BC/OC risk management were limited and differed between countries, especially with regard to starting age and type of imaging techniques and risk-reducing surgery recommendations. Conclusions: Only a few genes beyond BRCA1/2 are currently routinely analyzed and related management guidelines are limited and largely based on expert opinion. To achieve clinical application of multigene panel testing through evidence-based management practices, clinicians and patients should be encouraged to participate in international initiatives aimed at sharing information from panel testing, interpreting sequence variants, and collecting prospective data to underpin risk estimates and evaluate the outcome of risk intervention strategies.

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