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Comment & Response
May 20, 2021

Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer—Reply

Author Affiliations
  • 1Invitae, San Francisco, California
  • 2Division of Gastroenterology and Hepatology, Mayo Clinic, Phoenix, Arizona
JAMA Oncol. 2021;7(7):1071-1072. doi:10.1001/jamaoncol.2021.1012

In Reply Dr Sorscher’s comments appropriately note that classification of pathogenic germline variants (PGVs) as high or moderate penetrance is based primarily on studies in individuals of families with a known family history of increased cancer risk. In the Interrogating Cancer Etiology Using Proactive Genetic Testing (INTERCEPT) study,1 individuals with PGVs were treated clinically according to the established penetrance of the PGVs, independent of the patient having a demonstrated high-risk or moderate-risk pedigree, consistent with current National Comprehensive Cancer Network (NCCN) recommendations. While cancer risk estimates of particular PGVs may be overestimated in patients without a known high pretest probability, we thought a conservative management approach to be appropriate. Additional research is warranted to refine the universal penetrance of specific PGVs in individuals for whom elicited family history is erroneous, incomplete, or unavailable, as is often the case in real-world practice.

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