PD48-06 DETECTION OF GERMLINE MUTATIONS IN LOCALIZED AND METASTATIC PROSTATE CANCER THROUGH GUIDLINE-BASED TESTING

Abstract

You have accessJournal of UrologyProstate Cancer: Detection & Screening V (PD48)1 Apr 2020PD48-06 DETECTION OF GERMLINE MUTATIONS IN LOCALIZED AND METASTATIC PROSTATE CANCER THROUGH GUIDLINE-BASED TESTING Randy Vince*, Jake Quarles, Michelle Jacobs, Mallory Luke, Samuel Kaffenberger, Simpa Salami, Sanjay Das, Marissa Solorzano, Elena Stoffel, Sofia Merajver, Jason Hafron, and Todd Morgan Randy Vince*Randy Vince* More articles by this author , Jake QuarlesJake Quarles More articles by this author , Michelle JacobsMichelle Jacobs More articles by this author , Mallory LukeMallory Luke More articles by this author , Samuel KaffenbergerSamuel Kaffenberger More articles by this author , Simpa SalamiSimpa Salami More articles by this author , Sanjay DasSanjay Das More articles by this author , Marissa SolorzanoMarissa Solorzano More articles by this author , Elena StoffelElena Stoffel More articles by this author , Sofia MerajverSofia Merajver More articles by this author , Jason HafronJason Hafron More articles by this author , and Todd MorganTodd Morgan More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000942.06AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: There continues to be increasing awareness that men with prostate cancer (PCa) frequently harbor germline mutations that may carry important implications for targeted therapies, mutation carriers within family members, and hereditary cancer syndromes. Most studies have focused on mutation rates in men with metastatic disease, and there is little prospective data surrounding mutation rates in men undergoing testing in clinical practice. Here, we sought to compare germline mutation rates in metastatic and localized PCa patients undergoing clinical testing. METHODS: Between 2017 – 2019 men diagnosed with PCa at Michigan Medicine and Michigan Institute of Urology (MIU) were offered multi-gene panel testing in accordance with NCCN BRCA-Related Breast and/or Ovarian Cancer Syndrome (HBOC) guidelines. Patient data was tracked in a prospectively collected registry, and rates of pathogenic/likely pathogenic mutations and variants of uncertain significance (VUS) were compared according to patient demographic and disease characteristics. RESULTS: Overall, 299 patients underwent testing, including 150 men with metastatic PCa and 149 with localized PCa. Median age was 69 (39-98) and 92% of patients were Caucasian. Rates of pathogenic/likely pathogenic germline mutations were 5.3% in metastatic and 11.4% in localized PCa patients. The most common mutations were in CHEK2 (44%), ATM (12%) and BRCA2 (12%) and FANCA (8%). CONCLUSIONS: A large proportion of men with PCa have mutations in key DNA damage repair genes. More data is needed to develop optimal screening guidelines in localized disease; however, the high detection rate in this cohort supports the current approach of offering testing based on NCCN guidelines. Source of Funding: n/a © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e995-e996 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Randy Vince* More articles by this author Jake Quarles More articles by this author Michelle Jacobs More articles by this author Mallory Luke More articles by this author Samuel Kaffenberger More articles by this author Simpa Salami More articles by this author Sanjay Das More articles by this author Marissa Solorzano More articles by this author Elena Stoffel More articles by this author Sofia Merajver More articles by this author Jason Hafron More articles by this author Todd Morgan More articles by this author Expand All Advertisement PDF downloadLoading ...