TY - JOUR
T1 - Genetic risk assessment for hereditary renal cell carcinoma
T2 - Clinical consensus statement
AU - Bratslavsky, Gennady
AU - Mendhiratta, Neil
AU - Daneshvar, Michael
AU - Brugarolas, James
AU - Ball, Mark W.
AU - Metwalli, Adam R.
AU - Nathanson, Katherine L.
AU - Pierorazio, Phillip M.
AU - Boris, Ronald S.
AU - Singer, Eric A.
AU - Carlo, Maria I.
AU - Daly, Mary
AU - Henske, Elizabeth P.
AU - Hyatt, Colette
AU - Middleton, Lindsay
AU - Morris, Gloria J.
AU - Jeong, Anhyo
AU - Narayan, Vivek
AU - Rathmell, W. Kimryn
AU - Vaishampayan, Ulka N.
AU - Lee, Bruce H.
AU - Battle, Dena
AU - Hall, Michael J.
AU - Hafez, Khaled
AU - Jewett, Michael A.S.
AU - Karamboulas, Christina
AU - Pal, Sumanta K.
AU - Hakimi, A. Ari
AU - Kutikov, Alexander
AU - Iliopoulos, Othon
AU - Linehan, W. Marston
AU - Jonasch, Eric
AU - Srinivasan, Ramaprasad
AU - Shuch, Brian
N1 - Publisher Copyright:
© 2021 American Cancer Society
PY - 2021/11/1
Y1 - 2021/11/1
N2 - 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.
AB - 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.
KW - clinical consensus
KW - genetic risk assessment
KW - genetic testing
KW - germline mutations
KW - hereditary kidney cancer
KW - recommendations
KW - renal cell carcinoma
UR - https://europepmc.org/articles/PMC8711633
U2 - 10.1002/cncr.33679
DO - 10.1002/cncr.33679
M3 - Article
C2 - 34343338
SN - 0008-543X
VL - 127
SP - 3957
EP - 3966
JO - Cancer
JF - Cancer
IS - 21
ER -