Veda N. Giri, Karen E. Knudsen, William K. Kelly, Robert B. Den, Adam P. Dicker, Jean Hoffman-Censits, Mark D. Hurwitz, Colette Hyatt, Grace Lu-Yao, Mark J. Mann, James R. Mark, Peter A. McCue, Ronald E. Myers, Stephen C. Peiper, Edouard J. Trabulsi, and Leonard G. Gomella, Jefferson Sidney Kimmel Cancer Center; Justin E. Bekelman, University of Pennsylvania Perelman School of Medicine; S. Bruce Malkowicz, University of Pennsylvania; Elias Obeid and Robert Uzzo, Fox Chase Cancer Center; Gordon F. Schwartz, Foundation for Breast and Prostate Health, Philadelphia; Mark S. Shahin, Hanjani Institute for Gynecologic Oncology, Abington Hospital-Jefferson Health, Abington, PA; Wassim Abida, Philip Kantoff, and Mark E. Robson, Memorial Sloan Kettering Cancer Center; Mitchell C. Benson, Columbia University, New York, NY; Gerald L. Andriole, Washington University School of Medicine, St Louis, MO; Chris H. Bangma, Erasmus Medical Center, Rotterdam, the Netherlands; Amie Blanco, and Matthew Cooperberg, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center, San Francisco; Christopher J. Kane, University of California San Diego, San Diego; Howard Sandler, Cedars-Sinai Medical Center, Los Angeles; Howard R. Soule, Prostate Cancer Foundation, Santa Monica, CA; Arthur Burnett, William B. Isaacs, Christian P. Pavlovich, and Patrick C. Walsh, Johns Hopkins Medical Institutions, Baltimore; Peter A. Pinto and Carol J. Weil, National Cancer Institute, Bethesda, MD; William J. Catalona and Edward Schaeffer, Northwestern University Feinberg School of Medicine; Scott Eggener, Sarah M. Nielsen, and Donald J. Vander Griend, University of Chicago, Chicago, IL; Kathleen A. Cooney, University of Utah School of Medicine, Salt Lake City, UT; David E. Crawford, University of Colorado, Aurora; Lawrence I. Karsh, The Urology Center of Colorado, Denver; Wendy Poage, Prostate Conditions Education Council, Elizabeth, CO; Neil Fleshner, University of Toronto Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Matthew L. Freedman, Kevin R. Loughlin, and Timothy R. Rebbeck, Dana Farber Cancer Institute, and Harvard TH Chan School of Public Health, Boston, MA; Freddie C. Hamdy, University of Oxford, Oxford, England; R. Jeffrey Karnes, Mayo Clinic, Rochester, MN; Eric A. Klein, Cleveland Clinic, Cleveland; Robert Pilarski, The Ohio State University, Columbus, OH; Daniel W. Lin, University of Washington, Seattle, WA; Martin M. Miner, Brown University, Providence, RI; Todd Morgan and Scott A. Tomlins, University of Michigan, Ann Arbor; Matt T. Rosenberg, Mid-Michigan Health Center, Jackson, MI; Judd W. Moul, Duke University, Duke Cancer Institute, Durham, NC; David F. Penson, Vanderbilt University Medical Center, Nashville, TN; Daniel Petrylak and Brian Shuch, Yale University, New Haven, CT; Curtis A. Pettaway, The University of Texas MD Anderson Cancer Center, Houston; Ganesh V. Raj, University of Texas Southwestern Medical Center at Dallas, Dallas, TX; Oliver Sartor, Tulane University Medical School, New Orleans, LA; Neal D. Shore, Atlantic Urology Clinics/Carolina Urologic Research Center, Myrtle Beach, SC; and Richard Wender, American Cancer Society, Atlanta, GA.
J Clin Oncol. 2018 Feb 1;36(4):414-424. doi: 10.1200/JCO.2017.74.1173. Epub 2017 Dec 13.
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.
目的 前列腺癌（PCA）的基因检测指南有限。本次会议的目的是在多基因检测时代，针对遗传性 PCA 的综合基因评估，制定一个由专家共识驱动的工作框架，解决遗传咨询、检测和基于遗传的管理问题。
方法 召集了一次专家共识会议，包括主要利益相关者，以解决遗传咨询和检测、PCA 筛查以及基于证据审查的管理问题。
结果 强烈认为患者应该参与基因检测的共同决策。强烈建议对疑似遗传性 PCA 进行 HOXB13 检测，对疑似遗传性乳腺癌和卵巢癌进行 BRCA1/2 检测，对疑似林奇综合征进行 DNA 错配修复基因检测。强烈建议将 BRCA2 突变纳入 PCA 筛查讨论。BRCA2 在纳入早期管理讨论方面获得了中等程度的共识，在高危/晚期和转移性环境中具有更强的共识。有中等程度的共识认为所有转移性去势抵抗性 PCA 男性均应进行检测，无论家族史如何，BRCA1/2 检测的共识更强，ATM 检测以告知预后和靶向治疗的共识较弱。
结论 据我们所知，这是第一个在多基因检测时代全面解决遗传性 PCA 基因评估框架的多学科共识声明。未来的研究应集中于为临床遗传检测制定家族性 PCA 的工作定义，扩大对侵袭性 PCA 的遗传贡献的理解，探索 PCA 管理中遗传检测的临床应用，对非裔美国男性进行遗传检测，以及解决遗传评估和检测具有临床异质性疾病 PCA 风险男性的价值框架。
