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October 3, 2019

Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility—Pandora’s Box Is Opening Wider

Author Affiliations
  • 1Breast Cancer Medicine and Clinical Genetics, Memorial Sloan Kettering Cancer Center, New York, New York
  • 2Basser Center for BRCA, University of Pennsylvania, Philadelphia
JAMA Oncol. Published online October 3, 2019. doi:10.1001/jamaoncol.2019.4004

Testing for inherited breast cancer (BC) susceptibility is an integral part of the practice of oncology. The initial purpose of testing was for cancer risk assessment to inform decisions about enhanced surveillance or risk-reducing surgery. Because there was a lack of evidence for benefit and concern about harms, professional societies recommended that testing be performed in patients who were most likely to carry pathogenic variants and should be performed in the context of a traditional genetics model, emphasizing nondirective counseling and shared decision-making. There is now strong evidence that BRCA1/2 testing can inform the treatment of an individual with BC.1 Knowing at the time of diagnosis whether an individual carries a pathogenic variant of the BRCA1/2 gene can inform the patient’s choice between breast conservation and bilateral mastectomy. Patients with early-stage BC and pathogenic variants in BRCA1/2 can benefit from surgery to mitigate metachronous ovarian cancer risk. In individuals with metastatic BC associated with a pathogenic variant of the BRCA1/2 gene, poly(ADP-ribose) polymerase inhibitor treatment may be warranted. These observations have led some to question whether it remains appropriate to select women for BRCA1/2 testing by specific criteria.

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