Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019

作者：Veda N. Giri, Karen E. Knudsen, William Kevin Kelly, Heather H. Cheng, Kathleen A. Cooney, Michael S. Cookson, William L. Dahut, Scott M. Weissman, Howard R. Soule, Daniel P. Petrylak, Adam P. Dicker, Saud H. AlDubayan, Amanda E. Toland, Colin C. Pritchard, Curtis A. Pettaway, Mary B. Daly, James L. Mohler, J. Kellogg Parsons, Peter R. Carroll, Robert Pilarski, Amie Blanco, Ashley Woodson, Alanna Kulchak Rahm, Mary-Ellen Taplin, Thomas J. Polascik, Brian T. Helfand, Colette Hyatt, Alicia K. Morgans, Felix Y. Feng, Michael P. Mullane, Jacqueline Powers, Raoul S. Concepcion, Daniel W. Lin, Richard C. Wender, James Ryan Mark, Anthony J. Costello, Arthur L. Burnett, Oliver Sartor, William B. Isaacs, Jianfeng Xu, Jeffrey N. Weitzel, Gerald L. Andriole, Himisha Beltran, Alberto Briganti, Lindsey Byrne, Anne Calvaresi, Thenappan Chandrasekar, David Y.T. Chen, Robert B. Den, Albert Dobi, E. David Crawford, James A. Eastham, Scott E. Eggener, Matthew L. Freedman, Marc B. Garnick, Patrick T. Gomella, Nathan Handley, Mark Hurwitz, Joseph K. Izes, R. Jeffrey Karnes, Costas D. Lallas, Lucia R. Languino, Stacy Loeb, Ana María López, Kevin R. Loughlin, Grace Lu‐Yao, S. Bruce Malkowicz, Mark Mann, Patrick Mille, Martin Miner, Todd M. Morgan, José Moreno, Lorelei A. Mucci, Ronald E. Myers, Sarah M. Nielsen, Brock O’Neil, Wayne H. Pinover, Peter A. Pinto, Wendy Poage, Ganesh V. Raj, Timothy R. Rebbeck, Charles J. Ryan, Howard M. Sandler, Matthew J. Schiewer, Emily Scott, Brittany M. Szymaniak, William Tester, Edouard J. Trabulsi, Neha Vapiwala, Evan Y. Yu, Charnita Zeigler‐Johnson, Leonard G. Gomella · 发表于：Journal of Clinical Oncology · 年份：2020 · DOI：10.1200/jco.20.00046 · 被引用次数：282 · 研究领域：BRCA gene mutations in cancer、Prostate Cancer Diagnosis and Treatment、Prostate Cancer Treatment and Research

PURPOSE Germline testing (GT) is a central feature of prostate cancer (PCA) treatment, management, and hereditary cancer assessment. Critical needs include optimized multigene testing strategies that incorporate evolving genetic data, consistency in GT indications and management, and alternate genetic evaluation models that address the rising demand for genetic services. METHODS A multidisciplinary consensus conference that included experts, stakeholders, and national organization leaders was convened in response to current practice challenges and to develop a genetic implementation framework. Evidence review informed questions using the modified Delphi model. The final framework included criteria with strong (> 75%) agreement (Recommend) or moderate (50% to 74%) agreement (Consider). RESULTS Large germline panels and somatic testing were recommended for metastatic PCA. Reflex testing—initial testing of priority genes followed by expanded testing—was suggested for multiple scenarios. Metastatic disease or family history suggestive of hereditary PCA was recommended for GT. Additional family history and pathologic criteria garnered moderate consensus. Priority genes to test for metastatic disease treatment included BRCA2, BRCA1, and mismatch repair genes, with broader testing, such as ATM, for clinical trial eligibility. BRCA2 was recommended for active surveillance discussions. Screening starting at age 40 years or 10 years before the youngest PCA diagnosis in a family was rec...