Gennady Bratslavsky1, Neil Mendhiratta2, Michael Daneshvar1,3, James Brugarolas4, Mark W Ball3, Adam Metwalli5, Katherine L Nathanson6,7, Phillip M Pierorazio8, Ronald S Boris9, Eric A Singer10, Maria I Carlo11, Mary B Daly12, Elizabeth P Henske13, Colette Hyatt14, Lindsay Middleton4, Gloria Morris1, Anhyo Jeong2, Vivek Narayan7,15, W Kimryn Rathmell16, Ulka Vaishampayan17, Bruce H Lee18, Dena Battle19, Michael J Hall20, Khaled Hafez21, Michael A S Jewett22, Christina Karamboulas22, Sumanta K Pal23, A Ari Hakimi11, Alexander Kutikov20, Othon Iliopoulos24, W Marston Linehan3, Eric Jonasch25, Ramaprasad Srinivasan3, Brian Shuch2. 1. Department of Urology, State University of New York (SUNY, Upstate Medical University, Syracuse, New York. 2. Department of Urology, University of California Los Angeles, Los Angeles, California. 3. Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland. 4. Department of Medicine, Division of Hematology-Oncology, University of Texas (UT) Southwestern Medical Center, Dallas, Texas. 5. Department of Surgery, Division of Urology, Howard University Hospital, Washington, District of Columbia. 6. Division of Human Genetics and Translational Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 7. Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 8. Brady Urological Institute and Department of Urology, Johns Hopkins School of Medicine, Baltimore, Maryland. 9. Indiana University School of Medicine, Indianapolis, Indiana. 10. Section of Urologic Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, New Jersey. 11. Memorial Sloan Kettering Cancer Center, New York, New York. 12. Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania. 13. Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. 14. Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania. 15. Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 16. Department of Medicine, Vanderbilt University, Nashville, Tennessee. 17. Department of Oncology, Karmanos Cancer Center/Wayne State University, Detroit, Michigan. 18. Driven To Cure, Silver Spring, Maryland. 19. The Kidney Cancer Research Alliance, Leesburg, Virginia. 20. Department of Surgery, Division of Urology, Fox Chase Cancer Center, Philadelphia, Pennsylvania. 21. Department of Urology, University of Michigan, Ann Arbor, Michigan. 22. Division of Urology, Department of Surgery, Princess Margaret Cancer Center, Toronto, Ontario, Canada. 23. Department of Medical Oncology, City of Hope Comprehensive Cancer Center, Duarte, California. 24. Massachusetts General Hospital Cancer Center, Boston, Massachusetts. 25. The University of Texas MD Anderson Cancer Center, Houston, Texas.
Abstract
BACKGROUND: Although renal cell carcinoma (RCC) is believed to have a strong hereditary component, there is a paucity of published guidelines for genetic risk assessment. A panel of experts was convened to gauge current opinions. METHODS: A North American multidisciplinary panel with expertise in hereditary RCC, including urologists, medical oncologists, clinical geneticists, genetic counselors, and patient advocates, was convened. Before the summit, a modified Delphi methodology was used to generate, review, and curate a set of consensus questions regarding RCC genetic risk assessment. Uniform consensus was defined as ≥85% agreement on particular questions. RESULTS: Thirty-three panelists, including urologists (n = 13), medical oncologists (n = 12), genetic counselors and clinical geneticists (n = 6), and patient advocates (n = 2), reviewed 53 curated consensus questions. Uniform consensus was achieved on 30 statements in specific areas that addressed for whom, what, when, and how genetic testing should be performed. Topics of consensus included the family history criteria, which should trigger further assessment, the need for risk assessment in those with bilateral or multifocal disease and/or specific histology, the utility of multigene panel testing, and acceptance of clinician-based counseling and testing by those who have experience with hereditary RCC. CONCLUSIONS: In the first ever consensus panel on RCC genetic risk assessment, 30 consensus statements were reached. Areas that require further research and discussion were also identified, with a second future meeting planned. This consensus statement may provide further guidance for clinicians when considering RCC genetic risk assessment. LAY SUMMARY: The contribution of germline genetics to the development of renal cell carcinoma (RCC) has long been recognized. However, there is a paucity of guidelines to define how and when genetic risk assessment should be performed for patients with known or suspected hereditary RCC. Without guidelines, clinicians struggle to define who requires further evaluation, when risk assessment or testing should be done, which genes should be considered, and how counseling and/or testing should be performed. To this end, a multidisciplinary panel of national experts was convened to gauge current opinion on genetic risk assessment in RCC and to enumerate a set of recommendations to guide clinicians when evaluating individuals with suspected hereditary kidney cancer.
BACKGROUND: Although renal cell carcinoma (RCC) is believed to have a strong hereditary component, there is a paucity of published guidelines for genetic risk assessment. A panel of experts was convened to gauge current opinions. METHODS: A North American multidisciplinary panel with expertise in hereditary RCC, including urologists, medical oncologists, clinical geneticists, genetic counselors, and patient advocates, was convened. Before the summit, a modified Delphi methodology was used to generate, review, and curate a set of consensus questions regarding RCC genetic risk assessment. Uniform consensus was defined as ≥85% agreement on particular questions. RESULTS: Thirty-three panelists, including urologists (n = 13), medical oncologists (n = 12), genetic counselors and clinical geneticists (n = 6), and patient advocates (n = 2), reviewed 53 curated consensus questions. Uniform consensus was achieved on 30 statements in specific areas that addressed for whom, what, when, and how genetic testing should be performed. Topics of consensus included the family history criteria, which should trigger further assessment, the need for risk assessment in those with bilateral or multifocal disease and/or specific histology, the utility of multigene panel testing, and acceptance of clinician-based counseling and testing by those who have experience with hereditary RCC. CONCLUSIONS: In the first ever consensus panel on RCC genetic risk assessment, 30 consensus statements were reached. Areas that require further research and discussion were also identified, with a second future meeting planned. This consensus statement may provide further guidance for clinicians when considering RCC genetic risk assessment. LAY SUMMARY: The contribution of germline genetics to the development of renal cell carcinoma (RCC) has long been recognized. However, there is a paucity of guidelines to define how and when genetic risk assessment should be performed for patients with known or suspected hereditary RCC. Without guidelines, clinicians struggle to define who requires further evaluation, when risk assessment or testing should be done, which genes should be considered, and how counseling and/or testing should be performed. To this end, a multidisciplinary panel of national experts was convened to gauge current opinion on genetic risk assessment in RCC and to enumerate a set of recommendations to guide clinicians when evaluating individuals with suspected hereditary kidney cancer.
Authors: Kevin A Nguyen; Jamil S Syed; Carin R Espenschied; Holly LaDuca; Ansh M Bhagat; Alfredo Suarez-Sarmiento; Timothy K O'Rourke; Karina L Brierley; Erin W Hofstatter; Brian Shuch Journal: Cancer Date: 2017-08-08 Impact factor: 6.860
Authors: Jennifer M Hoskovec; R L Bennett; M E Carey; J E DaVanzo; M Dougherty; S E Hahn; B S LeRoy; S O'Neal; J G Richardson; C A Wicklund Journal: J Genet Couns Date: 2017-10-20 Impact factor: 2.537
Authors: Michael J Hall; Linda J Patrick-Miller; Brian L Egleston; Susan M Domchek; Mary B Daly; Pamela Ganschow; Generosa Grana; Olufunmilayo I Olopade; Dominique Fetzer; Amanda Brandt; Rachelle Chambers; Dana F Clark; Andrea Forman; Rikki Gaber; Cassandra Gulden; Janice Horte; Jessica M Long; Terra Lucas; Shreshtha Madaan; Kristin Mattie; Danielle McKenna; Susan Montgomery; Sarah Nielsen; Jacquelyn Powers; Kim Rainey; Christina Rybak; Michelle Savage; Christina Seelaus; Jessica Stoll; Jill E Stopfer; Xinxin Shirley Yao; Angela R Bradbury Journal: JCO Precis Oncol Date: 2018-12-18
Authors: Douglas F Easton; Paul D P Pharoah; Antonis C Antoniou; Marc Tischkowitz; Sean V Tavtigian; Katherine L Nathanson; Peter Devilee; Alfons Meindl; Fergus J Couch; Melissa Southey; David E Goldgar; D Gareth R Evans; Georgia Chenevix-Trench; Nazneen Rahman; Mark Robson; Susan M Domchek; William D Foulkes Journal: N Engl J Med Date: 2015-05-27 Impact factor: 91.245
Authors: Alberto Lapini; Orazio Caffo; Giovanni Pappagallo; Roberto Iacovelli; Rolando Maria D'Angelillo; Vittorio Vavassori; Roberta Ceccarelli; Sergio Bracarda; Barbara Alicja Jereczek-Fossa; Luigi Da Pozzo; Giario Natale Conti Journal: Cancers (Basel) Date: 2019-12-01 Impact factor: 6.639
Authors: Thomas B L Lam; Steven MacLennan; Peter-Paul M Willemse; Malcolm D Mason; Karin Plass; Robert Shepherd; Ruud Baanders; Chris H Bangma; Anders Bjartell; Alberto Bossi; Erik Briers; Alberto Briganti; Karel T Buddingh; James W F Catto; Maurizio Colecchia; Brett W Cox; Marcus G Cumberbatch; Jeff Davies; Niall F Davis; Maria De Santis; Paolo Dell'Oglio; André Deschamps; James F Donaldson; Shin Egawa; Christian D Fankhauser; Stefano Fanti; Nicola Fossati; Giorgio Gandaglia; Silke Gillessen; Nikolaos Grivas; Tobias Gross; Jeremy P Grummet; Ann M Henry; Alexandre Ingels; Jacques Irani; Michael Lardas; Matthew Liew; Daniel W Lin; Lisa Moris; Muhammad Imran Omar; Karl H Pang; Catherine C Paterson; Raphaële Renard-Penna; Maria J Ribal; Monique J Roobol; Morgan Rouprêt; Olivier Rouvière; Gemma Sancho Pardo; Jonathan Richenberg; Ivo G Schoots; J P Michiel Sedelaar; Phillip Stricker; Derya Tilki; Susanne Vahr Lauridsen; Roderick C N van den Bergh; Thomas Van den Broeck; Theodorus H van der Kwast; Henk G van der Poel; Geert J L H van Leenders; Murali Varma; Philippe D Violette; Christopher J D Wallis; Thomas Wiegel; Karen Wilkinson; Fabio Zattoni; James M O N'Dow; Hendrik Van Poppel; Philip Cornford; Nicolas Mottet Journal: Eur Urol Date: 2019-10-03 Impact factor: 20.096
Authors: Veda N Giri; Karen E Knudsen; William K Kelly; Heather H Cheng; Kathleen A Cooney; Michael S Cookson; William Dahut; Scott 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 Rahm; Mary-Ellen Taplin; Thomas J Polascik; Brian T Helfand; Colette Hyatt; Alicia K Morgans; Felix Feng; Michael Mullane; Jacqueline Powers; Raoul Concepcion; Daniel W Lin; Richard Wender; James Ryan Mark; Anthony Costello; Arthur L Burnett; Oliver Sartor; William B Isaacs; Jianfeng Xu; Jeffrey 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 Eastham; Scott Eggener; Matthew L Freedman; Marc Garnick; Patrick T Gomella; Nathan Handley; Mark D Hurwitz; Joseph Izes; R Jeffrey Karnes; Costas Lallas; Lucia Languino; Stacy Loeb; Ana Maria Lopez; Kevin R Loughlin; Grace Lu-Yao; S Bruce Malkowicz; Mark Mann; Patrick Mille; Martin M Miner; Todd Morgan; Jose Moreno; Lorelei Mucci; Ronald E Myers; Sarah M Nielsen; Brock O'Neil; Wayne Pinover; Peter Pinto; Wendy Poage; Ganesh V Raj; Timothy R Rebbeck; Charles Ryan; Howard Sandler; Matthew Schiewer; E Michael D Scott; Brittany Szymaniak; William Tester; Edouard J Trabulsi; Neha Vapiwala; Evan Y Yu; Charnita Zeigler-Johnson; Leonard G Gomella Journal: J Clin Oncol Date: 2020-06-09 Impact factor: 44.544
Authors: Bryndis Yngvadottir; Avgi Andreou; Laia Bassaganyas; Alexey Larionov; Alex J Cornish; Daniel Chubb; Charlie N Saunders; Philip S Smith; Huairen Zhang; Yasemin Cole; Genomics England Research Consortium; James Larkin; Lisa Browning; Samra Turajlic; Kevin Litchfield; Richard S Houlston; Eamonn R Maher Journal: Hum Mol Genet Date: 2022-08-25 Impact factor: 5.121