Role of genetic testing for inherited prostate cancer risk: Philadelphia prostate cancer consensus conference 2017


Veda N. Giri, Sidney Kimmel Cancer Center at Jefferson
Karen E. Knudsen, Thomas Jefferson University
William K. Kelly, Sidney Kimmel Cancer Center at Jefferson
Wassim Abida, Abington Hospital-Jefferson Health
Gerald L. Andriole, Washington University School of Medicine in St. Louis
Chris H. Bangma, Erasmus MC
Justin E. Bekelman, University of Pennsylvania Perelman School of Medicine
Mitchell C. Benson, Columbia University in the City of New York
Amie Blanco, UCSF Helen Diller Family Comprehensive Cancer Center
Arthur Burnett, Johns Hopkins Medical Institutions
William J. Catalona
Kathleen A. Cooney, The University of Utah
Matthew Cooperberg, UCSF Helen Diller Family Comprehensive Cancer Center
David E. Crawford, University of Colorado
Robert B. Den
Adam P. Dicker, Thomas Jefferson University
Scott Eggener, The University of Chicago
Neil Fleshner, University of Toronto
Matthew L. Freedman, Harvard T.H. Chan School of Public Health
Freddie C. Hamdy, University of Oxford
Jean Hoffman-Censits, Sidney Kimmel Cancer Center at Jefferson
Mark D. Hurwitz, Thomas Jefferson University
Colette Hyatt, Thomas Jefferson University
William B. Isaacs, Johns Hopkins Medical Institutions
Christopher J. Kane, University of California, San Diego
Philip Kantoff, Memorial Sloan-Kettering Cancer Center
R. Jeffrey Karnes, Mayo Clinic
Lawrence I. Karsh, Urology Center of Colorado
Eric A. Klein, Cleveland Clinic Foundation
Daniel W. Lin, Prostate Cancer Foundation
Kevin R. Loughlin, Harvard T.H. Chan School of Public Health
Grace Lu-Yao, Thomas Jefferson University
S. Bruce Malkowicz, University of Pennsylvania

Document Type

Journal Article

Publication Date



Journal of Clinical Oncology








© 2017 by American Society of Clinical Oncology. Purpose: Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods: An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results: Consensus was strong that patients should engage in shared decision making for genetic testing. There was strong consensus to test HOXB13 for suspected hereditary PCA, BRCA1/2 for suspected hereditary breast and ovarian cancer, and DNA mismatch repair genes for suspected Lynch syndrome. There was strong consensus to factor BRCA2 mutations into PCA screening discussions. BRCA2 achieved moderate consensus for factoring into early-stage management discussion, with stronger consensus in high-risk/advanced and metastatic setting. Agreement was moderate to test all men with metastatic castration-resistant PCA, regardless of family history, with stronger agreement to test BRCA1/2 and moderate agreement to test ATM to inform prognosis and targeted therapy. Conclusion: To our knowledge, this is the first comprehensive, multidisciplinary consensus statement to address a genetic evaluation framework for inherited PCA in the multigene testing era. Future research should focus on developing a working definition of familial PCA for clinical genetic testing, expanding understanding of genetic contribution to aggressive PCA, exploring clinical use of genetic testing for PCA management, genetic testing of African American males, and addressing the value framework of genetic evaluation and testing men at risk for PCA-a clinically heterogeneous disease.

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