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Bratslavsky G , Mendhiratta N , Daneshvar M , Brugarolas J , Ball MW , Metwalli A , Nathanson KL , Pierorazio PM , Boris RS , Singer EA , Carlo MI , Daly MB , Henske EP , Hyatt C , Middleton L , Morris G , Jeong A , Narayan V , Rathmell WK , Vaishampayan U , Lee BH , Battle D , Hall MJ , Hafez K , Jewett MAS , Karamboulas C , Pal SK , Hakimi AA , Kutikov A , Iliopoulos O , Linehan WM , Jonasch E , Srinivasan R , Shuch B
Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement
Cancer. 2021 Aug 3
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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.
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1097-0142 Bratslavsky, Gennady Mendhiratta, Neil Orcid: 0000-0002-4071-3094 Daneshvar, Michael Brugarolas, James Ball, Mark W Orcid: 0000-0003-1780-2627 Metwalli, Adam Nathanson, Katherine L Pierorazio, Phillip M Boris, Ronald S Singer, Eric A Carlo, Maria I Daly, Mary B Henske, Elizabeth P Hyatt, Colette Middleton, Lindsay Morris, Gloria Jeong, Anhyo Narayan, Vivek Rathmell, W Kimryn Vaishampayan, Ulka Orcid: 0000-0001-5800-4571 Lee, Bruce H Battle, Dena Hall, Michael J Hafez, Khaled Jewett, Michael A S Karamboulas, Christina Pal, Sumanta K Orcid: 0000-0002-1712-0848 Hakimi, A Ari Kutikov, Alexander Iliopoulos, Othon Linehan, W Marston Jonasch, Eric Srinivasan, Ramaprasad Shuch, Brian Orcid: 0000-0003-2065-3570 P30CA072720/CA/NCI NIH HHS/United States Journal Article United States Cancer. 2021 Aug 3. doi: 10.1002/cncr.33679.