Mp41-15 Germline Dna Damage Repair Gene Mutations in Early Stage Prostate Cancer Patients Undergoing Active Surveillance or Definitive Local Treatment

You have accessJournal of UrologyProstate Cancer: Markers I (MP41)1 May 2024MP41-15 GERMLINE DNA DAMAGE REPAIR GENE MUTATIONS IN EARLY STAGE PROSTATE CANCER PATIENTS UNDERGOING ACTIVE SURVEILLANCE OR DEFINITIVE LOCAL TREATMENT James T. Kearns, Sarah M. Nielsen, Emily M. Russell, Chad Moretz, Edward D. Esplin, Michael Korn, Brian T. Helfand, and Scott E. Eggener James T. KearnsJames T. Kearns , Sarah M. NielsenSarah M. Nielsen , Emily M. RussellEmily M. Russell , Chad MoretzChad Moretz , Edward D. EsplinEdward D. Esplin , Michael KornMichael Korn , Brian T. HelfandBrian T. Helfand , and Scott E. EggenerScott E. Eggener View All Author Informationhttps://doi.org/10.1097/01.JU.0001008896.93851.5b.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Men with prostate cancer (PC) and pathogenic germline variants (PGV) in select DNA damage repair (DDR) genes have more aggressive disease and poorer outcomes. However, the prevalence and demography of DDR PGV is understudied in early stage PC. The objective of this study was to describe a cohort of men with early stage PC who underwent germline genetic testing (GGT). METHODS: A linked dataset of GGT (Invitae Corporation) and insurance claims data (Komodo Healthcare MapTM) was assembled for PC patients with >1 year of continuous enrollment pre-diagnosis from 2015-2023. ICD/CPT codes were used to define diagnoses and procedures. Active surveillance (AS) was defined as a PC diagnosis, no treatment, and PSA testing/repeat PC biopsy within 1 year. Definitive local therapy (DLT) was defined as surgery or radiation +/- androgen deprivation therapy. Genes: ATM, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D. Chi-square tests were used for categorical variables with a Bonferroni correction for post hoc analysis and two sample t-tests were used for continuous variables. RESULTS: 4,763 men with localized PC underwent GGT: 428 (9.0%) were positive for ≥1 DDR gene, 2,496 (52.4%) were negative, and 1,839 (38.6%) were positive for >1 non-DDR gene and/or variant of uncertain significance (Table 1). There was a similar prevalence of DDR-positives in the AS (9.3%) and DLT (8.6%) cohorts. The most common DDR PGV were in CHEK2 and BRCA2 (Table 2). Men who had DLT were significantly younger and more likely to have a family history of PC than those undergoing AS (p<0.001). White men had higher rates of DDR PGV (p=0.025). DDR-positive Black men were significantly more likely to undergo DLT (70.0%) compared to White men (45.3%) (p=0.038). CONCLUSIONS: Among men with localized prostate cancer undergoing germline testing, 9% had a DNA damage repair germline variant. Younger men, Black men, and men with a family history of prostate cancer were more likely to undergo definitive local treatment. Source of Funding: None © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e680 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information James T. Kearns More articles by this author Sarah M. Nielsen More articles by this author Emily M. Russell More articles by this author Chad Moretz More articles by this author Edward D. Esplin More articles by this author Michael Korn More articles by this author Brian T. Helfand More articles by this author Scott E. Eggener More articles by this author Expand All Advertisement PDF downloadLoading ...