You have accessJournal of UrologyKidney Cancer: Epidemiology & Evaluation/Staging I1 Apr 2018MP28-18 INHERITED PATHOGENIC VARIANTS IDENTIFIED IN PATIENTS WITH RENAL CANCER Maegan Roberts, Megan Marshall, Natalie Carter, Kevin Arvai, Lance Grau, Shirley Yao, Ying Wang, Rachel Klein, and Kathleen Hruska Maegan RobertsMaegan Roberts More articles by this author , Megan MarshallMegan Marshall More articles by this author , Natalie CarterNatalie Carter More articles by this author , Kevin ArvaiKevin Arvai More articles by this author , Lance GrauLance Grau More articles by this author , Shirley YaoShirley Yao More articles by this author , Ying WangYing Wang More articles by this author , Rachel KleinRachel Klein More articles by this author , and Kathleen HruskaKathleen Hruska More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2018.02.918AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES It is estimated that 3-5% of all renal cancers are due to a hereditary predisposition. Additionally, hereditary renal cancers have been reported to develop at earlier ages and are more likely to present as multifocal or bilateral disease. We describe clinical features of probands with renal cancer with a pathogenic or likely pathogenic variant (collectively, PV) identified via multi-gene hereditary cancer panel testing. METHODS We performed a retrospective review of clinical and molecular data for all individuals diagnosed with renal cancer undergoing multi-gene panel testing at our clinical diagnostic laboratory (N=945). Individuals with cancer of the renal pelvis were excluded. Student′s t-test with two-sided p-value of 0.05 was used to compare age at diagnosis. RESULTS Of the 945 individuals reporting a personal history of renal cancer, 93 PVs were identified in 89 individuals (9.4%). Thirty-nine individuals (4.1%) were identified as having a PV in a gene previously associated with hereditary renal cancer. While 50 individuals (5.3%) were found to have a PV in a gene not previously associated with hereditary renal cancer, 39 (78%) reported a history of a second non-renal primary tumor. A personal history of >1 renal cancer was reported for 98 (10.4%) individuals. Among these, 12 (12.2%) were found to have a PV in ATM, BAP1, CHEK2, FH (3), MET, MITF, WT1, SDHA, TSC1, and VHL. Individuals with >1 renal cancer who tested positive (41.2 yrs) tended to be diagnosed at a younger age compared to those who tested negative (49.8 yrs) (p=0.085). Among those reporting a single primary renal cancer, the yield was 7.4% (21/284), and the average age at diagnosis was not significantly different between those testing positive (42.0 yrs) and those testing negative (44.2 yrs) (p=0.544). When assessing family history, 178 (18.8%) reported a family history of renal cancer; 20 (11.2%) were found to have a PV. CONCLUSIONS The overall PV yield observed in this cohort was 9.4%. When limiting to genes known to be associated with a hereditary predisposition to renal cancer, the yield was 4.1%, consistent with published estimates. The highest PV yield (12.2%) was observed in individuals with >1 renal tumor followed by those reporting a family history of renal cancer (11.2%). Age at diagnosis was not significantly different with regards to PV yield in either group evaluated. Overall, individuals with >1 renal tumor or a family history of renal cancer have the highest yield for PVs. © 2018FiguresReferencesRelatedDetails Volume 199Issue 4SApril 2018Page: e363-e364 Advertisement Copyright & Permissions© 2018MetricsAuthor Information Maegan Roberts More articles by this author Megan Marshall More articles by this author Natalie Carter More articles by this author Kevin Arvai More articles by this author Lance Grau More articles by this author Shirley Yao More articles by this author Ying Wang More articles by this author Rachel Klein More articles by this author Kathleen Hruska More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...
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