Pd58-01 Germline Genetic Testing in a Broad Cohort of Renal Cell Carcinoma Patients

You have accessJournal of UrologyKidney Cancer: Epidemiology & Evaluation/Staging/Surveillance III (PD58)1 May 2024PD58-01 GERMLINE GENETIC TESTING IN A BROAD COHORT OF RENAL CELL CARCINOMA PATIENTS Alicia C. Pollaci, Sarah M. Nielsen, Dianne Koeller, Alison Schwartz Levine, Huma Q. Rana, Judy E. Garber, and Michael T. Serzan Alicia C. PollaciAlicia C. Pollaci , Sarah M. NielsenSarah M. Nielsen , Dianne KoellerDianne Koeller , Alison Schwartz LevineAlison Schwartz Levine , Huma Q. RanaHuma Q. Rana , Judy E. GarberJudy E. Garber , and Michael T. SerzanMichael T. Serzan View All Author Informationhttps://doi.org/10.1097/01.JU.0001008868.74763.2c.01AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Germline genetic testing (GGT) can be considered for renal cell carcinoma (RCC) patients (pts) diagnosed at age <46 years or with bilateral/multifocal disease or certain histologies. Retrospective studies of selected cohorts with advanced disease or suggestive personal/family histories show a pathogenic germline variant (PGV) prevalence up to 17%. However, the prevalence of PGVs and clinical utility of GGT in prospective unselected cohorts of pts with RCC is largely unknown. METHODS: The PROACTIVE (PROfile And Cancer gene Testing for IndiVidual Evaluation) Study (IRB # 18-411) is a prospective study of pts with diverse tumor types who undergo clinical somatic sequencing and germline clinical GGT through multigene panel testing (MGPT) of 133-156 genes, if they have not had previous MGPT. This analysis was limited to pts with RCC consented between 7/2019 and 8/2023. RESULTS: Of the 130 RCC enrolled pts, 118 (91%) were eligible and 96 (81%) completed MGPT. The final cohort was mostly male (72%) and the mean (SD) age at consent was 61 (13). In total, 32 PGVs were identified in 24 (25%) pts. After excluding 14 pts who only had a single PGV in a gene(s) associated with autosomal recessive cancer risk (i.e. MUTYH), the PGV prevalence was 10%. The remaining 10 pts had a total of 15 high- or moderate-risk PGVs, all potentially clinically actionable based on published management guidelines, targeted therapies and/or clinical trial eligibility (Table 1). Four of the pts had PGVs in genes with an established (FH, VHL) or suggested association with RCC (MITF). CONCLUSIONS: Potentially clinically actionable PGVs were identified in 10% of pts with RCC and the majority (60%) of these findings were not consistent with the patient's clinical presentation and would not have prompted GGT. These findings support broader implementation of GGT for RCC. Source of Funding: Invitae Corporation © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e1214 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Alicia C. Pollaci More articles by this author Sarah M. Nielsen More articles by this author Dianne Koeller More articles by this author Alison Schwartz Levine More articles by this author Huma Q. Rana More articles by this author Judy E. Garber More articles by this author Michael T. Serzan More articles by this author Expand All Advertisement PDF downloadLoading ...