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November 2018

Multitiered Questions Regarding Multigene Testing for Cancer Susceptibility

Author Affiliations
  • 1Division of Breast Surgery, Department of Surgery, Weill Cornell Medicine/New York Presbyterian Hospital Network, New York
JAMA Surg. 2018;153(11):983-984. doi:10.1001/jamasurg.2018.4064

Expert consensus statements are most helpful when they provide a model for handling questions that arise frequently in clinical practice but for which high-level evidence is lacking. Following the 2013 Supreme Court ruling that invalidated gene patenting,1 there has been a veritable explosion of information regarding a broad spectrum of cancer susceptibility–related genes, some with high penetrance and others with moderate/low risk. Moreover, extent of pathogenicity varies by mutation in each gene. Detecting a deleterious mutation in a high-penetrance gene, such as BRCA1 or BRCA2, can provide patients with opportunities to consider prophylactic oophorectomy for its potential longevity benefits or prophylactic mastectomy for its potential risk-reducing benefits.2 Indeed, existing knowledge regarding actionable mutations has prompted some investigators to recommend population-based testing for pathogenic mutations as a rational as well as cost-efficient public health strategy.3,4

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