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JAMA Network Insights
December 2018

Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes

Author Affiliations
  • 1Department of Surgery, Brigham and Women’s Hospital, Boston, Massachusetts
  • 2Division of Breast Oncology, Dana Farber Cancer Institute, Boston, Massachusetts
  • 3Division of Cancer Genetics and Prevention, Dana Farber Cancer Institute, Boston, Massachusetts
JAMA Surg. 2018;153(12):1145-1146. doi:10.1001/jamasurg.2018.2493

Improvements in sequencing technology and multigene panel testing have helped identify a growing number of patients with mutations in moderate penetrance genes,1,2 defined as genes associated with a relative risk (RR) of breast cancer that is 2 to 5 times higher than population risk.1,3 These mutations increase primary breast cancer risk by a magnitude similar to the risk associated with atypical ductal or lobular hyperplasias,3 yet little data are available to define the magnitude of the risk of contralateral breast cancer (CBC) in affected individuals. The breast oncology community is faced with counseling patients regarding the advantages and disadvantages of risk-reducing strategies based on scant data. In this article, we summarize the available information on the risk of primary breast cancer and CBC associated with moderate penetrance genes to facilitate surgical risk-reduction counseling.

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