SUO 2017: Targeted Early Detection In Men At High Genetic Risk For Prostate Cancer

Washington, DC ( Heritable mutations that predispose to prostate cancer are increasingly being recognized, and the NCCN Early Detection guidelines now include “family or personal history of BRCA1/2 mutations” as an important factor in the decision whether to perform prostate cancer screening. Despite this, many U.S. patients at high genetic prostate cancer risk are unaware of the need for screening, and there is little data in U.S. patients regarding how best to tailor screening. The authors therefore sought to develop an early detection program for this patient population.

Methods: Patients with known mutations in prostate cancer susceptibility genes are enrolled into the Prostate Cancer Risk Clinic. Eligible patients have known mutations, including: BRCA 1/2, Lynch syndrome (MLH1, MSH2, MSH6), p53, HOXB13, ATM, PALB2, CHEK2, RAD51D, ATR, NBN, GEN1, RAD51C, MRE11A, BRIP1, or FAM175A. Total planned enrollment is 200 men aged 35-70 years and without a prior known prostate cancer. Annual screening is performed, including PSA, DRE, and SelectMDx urine assay. Baseline dietary and quality of life survey data are collected as well. Indications for biopsy include: 1) abnormal DRE, 2) PSA above threshold (>2 ng/ml for patients <50 years, >2.5 ng/ml for patients 50-70 years), or 3) abnormal SelectMDx score. Participants with normal DRE, PSA, and SelectMDx scores or who do not show prostate cancer on biopsy will be seen annually for repeat screening.

Results: Up to this point 9 patients have been enrolled: 3 with BRCA 1 mutations, 3 with BRCA 2 mutations, 1 with CHEK 2 mutation, and 2 with Lynch Syndrome (MSH6 and MSH2 mutations). Three participants have elevated PSAs above threshold and their prostate biopsies were negative for prostate cancer. SelectMDx and DRE were normal for all patients.

Conclusion: Early data indicate the feasibility of opening a dedicated early detection clinic for men at high genetic risk for prostate cancer. Patients are continued to be enrolled in an attempt to optimize early detection in this at risk population of aggressive prostate cancer.

Speaker: Sanjay Das, Ann Arbor MI, USA

Written by: Hanan Goldberg, MD, Urologic Oncology Fellow (SUO), University of Toronto, Princess Margaret Cancer Centre, @GoldbergHanan, at the 18th Annual Meeting of the Society of Urologic Oncology, November 29-December 1, 2017 – Washington, DC