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August 20, 2019

Hereditary Cancer Evaluation in 2019—a Rapidly Evolving Landscape

Author Affiliations
  • 1Department of Medicine, University of Washington, Seattle
  • 2Clinical Investigations Branch, Cancer Therapy Evaluation Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Rockville, Maryland
JAMA Oncol. Published online August 20, 2019. doi:https://doi.org/10.1001/jamaoncol.2019.3431

In the August 20, 2019, issue of JAMA, the US Preventive Services Task Force (USPSTF) presents an update to its 2013 recommendations for risk assessment and testing for cancer related to the breast and ovarian cancer susceptibility gene BRCA,1 as well as a supporting systematic review and evidence report.2 The USPSTF continues to recommend genetic counseling in women at high risk of a BRCA mutation (B recommendation) and against it in those without an elevated risk (D recommendation). The new recommendation more explicitly includes ancestry associated with BRCA1/2 mutations as a risk factor and expands the population eligible for screening to include women with a prior breast, ovarian, peritoneal, or fallopian tube cancer. The breadth of knowledge regarding hereditary cancer syndromes and their appropriate management is rapidly evolving. Since the Supreme Court decision in 2013 that denied Myriad Genetics patent rights to BRCA1/2 testing, a large number of additional tests are now available. Many of these are multigene panels, which raise the issue of whether and when testing for mutations beyond BRCA1/2 should be pursued. Additionally, there are now therapeutic implications for the finding of a BRCA1/2 mutation in several cancers.