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Comment & Response
January 30, 2020

Variant Interpretation in Patients With Metastatic Breast Cancer

Author Affiliations
  • 1Molecular Diagnostics Laboratory, Institute of Nuclear & Radiological Sciences and Technology, Energy & Safety, National Centre for Scientific Research “Demokritos”, Athens, Greece
JAMA Oncol. 2020;6(4):581-582. doi:10.1001/jamaoncol.2019.6397

To the Editor We read with great interest the study by Stuttgen and colleagues1 assessing pathogenic germline variants in patients with metastatic breast cancer. The approval of 2 polyadenosine diphosphate–ribose polymerase inhibitors by the US Food and Drug Administration in 2018 opened a promising therapeutic potential for patients with metastatic breast cancer with germline pathogenic BRCA1 and BRCA2 variants. To our knowledge, there are no studies evaluating the prevalence of pathogenic/likely pathogenic (P/LP) variants in such patients by the use of multigene panels. The concept of the study published by Stuttgen and colleagues1 is novel and kick-starts an era of similar studies to follow.

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