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Research Letter
August 29, 2019

Pathogenic Germline Variants in Patients With Metastatic Breast Cancer

Author Affiliations
  • 1Johns Hopkins University School of Medicine, Baltimore, Maryland
  • 2Division of Hematology, Oncology, Department of Medicine, Vanderbilt Ingram Cancer Center, Nashville, Tennessee
JAMA Oncol. 2019;5(10):1506-1508. doi:10.1001/jamaoncol.2019.3116

There is still considerable debate on the value of multigene panel testing for inherited cancer in patients with breast cancer, based on both the prevalence of pathogenic/likely pathogenic (P/LP) variants and any therapeutic implications from genetic test results. Recent studies demonstrate that the prevalence of P/LP variants is similar in patients with breast cancer whether or not they meet critera for testing by the National Comprehensive Cancer Network (NCCN) guidelines.1,2 However, most participants in these studies were patients with early stage breast cancer and many low-risk variants were identified, raising the question of clinical actionability. The recent US Food and Drug Administration (FDA) approval of polyadenosine diphosphate–ribose polymerase (PARP) inhibitors for patients with metastatic human epidermal growth factor receptor 2 (HER2/ERBB2)-negative breast cancer with germline BRCA1 and BRCA2 (BRCA) pathogenic variants,3,4 suggests germline testing of patients with metastatic breast cancer could have therapeutic implications. Indeed, a recent study found 11.8% of otherwise unselected patients with metastatic prostate cancer harbored a P/LP germline variant,5 leading to a change in NCCN guidelines recommending germline testing for all patients with metastatic prostate cancer. However, to our knowledge, analogous studies to quantify the prevalence of P/LP variants among patients with metastatic breast cancer have not been performed.

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