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

被引:150
作者
Giri, Veda N. [1 ,2 ,3 ]
Knudsen, Karen E. [3 ]
Kelly, William K. [1 ]
Cheng, Heather H. [4 ,5 ]
Cooney, Kathleen A. [6 ,7 ]
Cookson, Michael S. [8 ]
Dahut, William [9 ]
Weissman, Scott [10 ]
Soule, Howard R. [11 ]
Petrylak, Daniel P. [12 ]
Dicker, Adam P. [13 ]
AlDubayan, Saud H. [14 ]
Toland, Amanda E. [15 ]
Pritchard, Colin C. [16 ]
Pettaway, Curtis A. [17 ]
Daly, Mary B. [18 ]
Mohler, James L. [19 ]
Parsons, J. Kellogg [20 ]
Carroll, Peter R. [21 ]
Pilarski, Robert [22 ,23 ]
Blanco, Amie [24 ]
Woodson, Ashley [17 ]
Rahm, Alanna [25 ]
Taplin, Mary-Ellen [14 ]
Polascik, Thomas J. [26 ]
Helfand, Brian T. [27 ]
Hyatt, Colette [28 ]
Morgans, Alicia K. [29 ]
Feng, Felix [21 ,30 ,31 ]
Mullane, Michael [32 ]
Powers, Jacqueline [33 ]
Concepcion, Raoul [34 ]
Lin, Daniel W. [35 ]
Wender, Richard [36 ]
Mark, James Ryan [2 ]
Costello, Anthony [37 ]
Burnett, Arthur L. [38 ]
Sartor, Oliver [39 ]
Isaacs, William B. [40 ]
Xu, Jianfeng [27 ]
Weitzel, Jeffrey [41 ]
Andriole, Gerald L. [42 ]
Beltran, Himisha [43 ]
Briganti, Alberto [44 ]
Byrne, Lindsey [45 ]
Calvaresi, Anne [2 ]
Chandrasekar, Thenappan [2 ]
Chen, David Y. T. [18 ]
Den, Robert B. [13 ]
Dobi, Albert [46 ,47 ]
机构
[1] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Dept Med Oncol, Philadelphia, PA 19107 USA
[2] Thomas Jefferson Univ, Dept Urol, Sidney Kimmel Canc Ctr, Philadelphia, PA 19107 USA
[3] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Dept Canc Biol, Philadelphia, PA 19107 USA
[4] Univ Washington, Dept Med, Seattle, WA USA
[5] Fred Hutchinson Canc Res Ctr, Div Clin Res, 1124 Columbia St, Seattle, WA 98104 USA
[6] Duke Univ, Sch Med, Durham, NC USA
[7] Duke Canc Inst, Durham, NC USA
[8] Univ Oklahoma, Coll Med, Norman, OK 73019 USA
[9] NCI, Genitourinary Malignancies Branch, NIH, Bethesda, MD 20892 USA
[10] Natl Soc Genet Counselors, Chicago, IL USA
[11] Prostate Canc Fdn, Santa Monica, CA USA
[12] Yale Canc Ctr, New Haven, CT USA
[13] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Dept Radiat Oncol, Philadelphia, PA 19107 USA
[14] Dana Farber Canc Inst, Boston, MA 02115 USA
[15] Ohio State Univ, Comprehens Canc Ctr, Dept Canc Biol & Genet, Columbus, OH 43210 USA
[16] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA
[17] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA
[18] Fox Chase Canc Ctr, 7701 Burholme Ave, Philadelphia, PA 19111 USA
[19] Roswell Park Comprehens Canc Ctr, Buffalo, NY USA
[20] Moores UC San Diego Comprehens Canc Ctr, San Diego, CA USA
[21] Univ Calif San Francisco, Dept Urol, San Francisco, CA USA
[22] Ohio State Univ, James Comprehens Canc Ctr, Columbus, OH 43210 USA
[23] Ohio State Univ, Dept Internal Med, Columbus, OH 43210 USA
[24] Univ Calif San Francisco, Canc Genet & Prevent Program, San Francisco, CA 94143 USA
[25] Geisinger, Genom Med Inst, Ctr Hlth Res, Danville, PA USA
[26] Duke Univ, Med Ctr, Durham, NC USA
[27] North Shore Univ Hlth Syst, Evanston, IL USA
[28] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Philadelphia, PA 19107 USA
[29] Northwestern Univ, Chicago, IL 60611 USA
[30] Univ Calif San Francisco, Dept Radiat Oncol, San Francisco, CA USA
[31] Univ Calif San Francisco, Dept Med, San Francisco, CA USA
[32] Advocate Aurora Hlth, Milwaukee, WI USA
[33] Univ Penn, Basser Ctr BRCA, Philadelphia, PA 19104 USA
[34] Integra Connect, W Palm Beach, FL USA
[35] Univ Washington, Seattle, WA 98195 USA
[36] Amer Canc Soc, Atlanta, GA 30329 USA
[37] Royal Melbourne Hosp, Urol, North Melbourne, Vic, Australia
[38] Johns Hopkins Med Inst, Baltimore, MD 21205 USA
[39] Tulane Univ, New Orleans, LA 70118 USA
[40] Johns Hopkins Med, Brady Urol Inst, Baltimore, MD USA
[41] City Hope Comprehens Canc Ctr, Duarte, CA USA
[42] Washington Univ, Sch Med, St Louis, MO USA
[43] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA
[44] Osped San Raffaele, Div Oncol, Unit Urol, Urol Res Inst,IRCCS, Milan, Italy
[45] Ohio State Univ, Columbus, OH 43210 USA
[46] Uniformed Serv Univ Hlth Sci, Dept Surg, Ctr Prostate Dis Res, Henry Jackson Fdn Adv Mil Med, Bethesda, MD USA
[47] Walter Reed Natl Mil Med Ctr, Bethesda, MD USA
[48] Univ Calif San Diego, La Jolla, CA 92093 USA
[49] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA
[50] Univ Chicago, Chicago, IL 60637 USA
基金
美国国家卫生研究院;
关键词
TP53 MUTATION CARRIERS; SERVICE DELIVERY; BRCA MUTATIONS; NATIONAL SOCIETY; RISK-ASSESSMENT; GENE; MEN; SURVIVAL; BREAST; ATM;
D O I
10.1200/JCO.20.00046
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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 recommended for BRCA2 carriers, with consideration in HOXB13, BRCA1, ATM, and mismatch repair carriers. Collaborative (point-of-care) evaluation models between health care and genetic providers was endorsed to address the genetic counseling shortage. The genetic evaluation framework included optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches. CONCLUSION This multidisciplinary, consensus-driven PCA genetic implementation framework provides novel guidance to clinicians and patients tailored to the precision era. Multiple research, education, and policy needs remain of importance.
引用
收藏
页码:2798 / +
页数:19
相关论文
共 100 条
[91]   The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine [J].
Stoll, Katie ;
Kubendran, Shobana ;
Cohen, Stephanie A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2018, 178 (01) :24-37
[92]  
Thompson D, 2002, JNCI-J NATL CANCER I, V94, P1358, DOI 10.1093/jnci/94.18.1358
[93]   Decreased Prostate Cancer-Specific Survival of Men with BRCA2 Mutations from Multiple Breast Cancer Families [J].
Thorne, Heather ;
Willems, Amber J. ;
Niedermayr, Eveline ;
Hoh, Ivan M. Y. ;
Li, Jason ;
Clouston, David ;
Mitchell, Gillian ;
Fox, Stephen ;
Hopper, John L. ;
Bolton, Damien .
CANCER PREVENTION RESEARCH, 2011, 4 (07) :1002-1010
[94]  
Toland Amanda Ewart, 2019, Can J Urol, V26, P17
[95]   Models of Service Delivery for Cancer Genetic Risk Assessment and Counseling [J].
Trepanier, Angela M. ;
Allain, Dawn C. .
JOURNAL OF GENETIC COUNSELING, 2014, 23 (02) :239-253
[96]   Prostate cancer progression and survival in BRCA2 mutation carriers [J].
Tryggvadottir, Laufey ;
Vidarsdottir, Linda ;
Thorgeirsson, Tryggvi ;
Jonasson, Jon Gunnlaugur ;
Olafsdottir, Elinborg Jona ;
Olafsdottir, Gudridur Helga ;
Rafnar, Thorunn ;
Thorlacius, Steinunn ;
Jonsson, Eirikur ;
Eyfjord, Jorunn Erla ;
Tulinius, Hrafn .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2007, 99 (12) :929-935
[97]   Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer [J].
Velho, Pedro Isaacsson ;
Silberstein, John L. ;
Markowski, Mark C. ;
Luo, Jun ;
Lotan, Tamara L. ;
Isaacs, William B. ;
Antonarakis, Emmanuel S. .
PROSTATE, 2018, 78 (05) :401-407
[98]  
Wang Y, 2015, INT J CLIN EXP MED, V8, P15708
[99]   A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer [J].
Wu, Yishuo ;
Yu, Hongjie ;
Zheng, S. Lilly ;
Na, Rong ;
Mamawala, Mufaddal ;
Landis, Tricia ;
Wiley, Kathleen ;
Petkewicz, Jacqueline ;
Shah, Sameep ;
Shi, Zhuqing ;
Novakovic, Kristian ;
McGuire, Michael ;
Brendler, Charles B. ;
Ding, Qiang ;
Helfand, Brian T. ;
Carter, H. Ballentine ;
Cooney, Kathleen A. ;
Isaacs, William B. ;
Xu, Jianfeng .
PROSTATE, 2018, 78 (08) :607-615
[100]   HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG) [J].
Xu, Jianfeng ;
Lange, Ethan M. ;
Lu, Lingyi ;
Zheng, Siqun L. ;
Wang, Zhong ;
Thibodeau, Stephen N. ;
Cannon-Albright, Lisa A. ;
Teerlink, Craig C. ;
Camp, Nicola J. ;
Johnson, Anna M. ;
Zuhlke, Kimberly A. ;
Stanford, Janet L. ;
Ostrander, Elaine A. ;
Wiley, Kathleen E. ;
Isaacs, Sarah D. ;
Walsh, Patrick C. ;
Maier, Christiane ;
Luedeke, Manuel ;
Vogel, Walther ;
Schleutker, Johanna ;
Wahlfors, Tiina ;
Tammela, Teuvo ;
Schaid, Daniel ;
McDonnell, Shannon K. ;
DeRycke, Melissa S. ;
Cancel-Tassin, Geraldine ;
Cussenot, Olivier ;
Wiklund, Fredrik ;
Gronberg, Henrik ;
Eeles, Ros ;
Easton, Doug ;
Kote-Jarai, Zsofia ;
Whittemore, Alice S. ;
Hsieh, Chih-Lin ;
Giles, Graham G. ;
Hopper, John L. ;
Severi, Gianluca ;
Catalona, William J. ;
Mandal, Diptasri ;
Ledet, Elisa ;
Foulkes, William D. ;
Hamel, Nancy ;
Mahle, Lovise ;
Moller, Pal ;
Powell, Isaac ;
Bailey-Wilson, Joan E. ;
Carpten, John D. ;
Seminara, Daniela ;
Cooney, Kathleen A. ;
Isaacs, William B. .
HUMAN GENETICS, 2013, 132 (01) :5-14