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September 2017

Multigene Panel Testing and Breast Cancer Risk: Is It Time to Scale Down?

Author Affiliations
  • 1Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania
JAMA Oncol. 2017;3(9):1176-1177. doi:10.1001/jamaoncol.2017.0342

Genetic predisposition testing for breast cancer and other cancers has become a cornerstone in the evaluation of women with breast cancer, particularly if their disease is diagnosed at an earlier age or there is a significant family history of cancer.1,2 The Supreme Court ruling in 2013 that human genes cannot be patented because DNA is a “product of nature” cleared the way for companies with next-generation sequencing capabilities to develop diverse tests and panels that include multiple genes associated with hereditary cancer risk.3 Although multigene panel testing has evolved into the standard for evaluating women who meet criteria for genetic testing in the past few years, concerns about the inclusion of moderate-risk genes on some multigene panels and the uncertain clinical utility of this information have tempered the enthusiasm for panel testing among health care professionals and patients alike. In this issue of JAMA Oncology, Couch et al4 address an important question regarding the association of several moderate-risk genes included on multigene panels and breast cancer risk.

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