Genetic testing and management of prostate cancer patients with pathogenic germline variants

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49.

Article  PubMed  Google Scholar 

Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, et al. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med. 2016;375(5):443–53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oh M, Alkhushaym N, Fallatah S, Althagafi A, Aljadeed R, Alsowaida Y, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880–95.

Article  CAS  PubMed  Google Scholar 

Castro E, Goh C, Olmos D, Saunders E, Leongamornlert D, Tymrakiewicz M, et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol. 2013;31(14):1748–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nyberg T, Frost D, Barrowdale D, Evans DG, Bancroft E, Adlard J, et al. Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study. Eur Urol. 2020;77(1):24–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nyberg T, Tischkowitz M, Antoniou AC. BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis. Br J Cancer. 2022;126(7):1067–81.

Article  PubMed  Google Scholar 

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352(18):1851–60.

Article  CAS  PubMed  Google Scholar 

Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66(15):7810–7.

Article  CAS  PubMed  Google Scholar 

Antonarakis ES, Piulats JM, Gross-Goupil M, Goh J, Ojamaa K, Hoimes CJ, et al. Pembrolizumab for treatment-refractory metastatic castration-resistant prostate cancer: multicohort, open-label phase II KEYNOTE-199 study. J Clin Oncol. 2020;38(5):395–405.

Article  CAS  PubMed  Google Scholar 

Petrelli F, Ghidini M, Ghidini A, Tomasello G. Outcomes Following Immune Checkpoint Inhibitor Treatment of Patients With Microsatellite Instability-High Cancers: A Systematic Review and Meta-analysis. JAMA Oncol. 2020;6(7:1068–71.

Article  Google Scholar 

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®) Prostate Cancer (version 1.2023).

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (version 1.2023).

Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, et al. EAU-EANM-ESTRO-ESUR-SIOG guidelines on prostate cancer – 2020 update. Part 1: screening, diagnosis, and local treatment with curative intent. Eur Urol. 2021;79(2):243–62.

Article  CAS  PubMed  Google Scholar 

Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, et al. Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019. J Clin Oncol. 2020;38(24):2798–811.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eastham JA, Auffenberg GB, Barocas DA, Chou R, Crispino T, Davis JW, et al. Clinically Localized Prostate Cancer: AUA/ASTRO Guideline, Part I: Introduction, Risk Assessment, Staging, and Risk-Based Management. J Urol. 2022;208(1):10–8.

Article  PubMed  Google Scholar 

Abacan M, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, et al. The global state of the genetic counseling profession. Eur J Hum Genet. 2019;27(2):183–97.

Article  PubMed  Google Scholar 

Rajwa P, Quhal F, Pradere B, Gandaglia G, Ploussard G, Leapman MS, et al. Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations. Nat Rev Urol. 2023;20(4):205–16.

Article  CAS  PubMed  Google Scholar 

Page EC, Bancroft EK, Brook MN, Assel M, Al Battat HM, Thomas S, et al. Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. Eur Urol. 2019;76(6):831–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bancroft EK, Page EC, Brook MN, Thomas S, Taylor N, Pope J, et al. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Lancet Oncol. 2021;22(11):1618–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Segal N, Ber Y, Benjaminov O, Tamir S, Yakimov M, Kedar I, et al. Imaging-based prostate cancer screening among BRCA mutation carriers-results from the first round of screening. Ann Oncol. 2020;31(11):1545–52.

Article  CAS  PubMed  Google Scholar 

Clark R, McAlpine K, Fleshner N. A Clinical Trial of Prophylactic Prostatectomy for BRCA2 Mutation Carriers. Is Now the Time? Eur Urol Focus. 2021;7(3):506–7.

Article  PubMed  Google Scholar 

Carter HB, Helfand B, Mamawala M, Wu Y, Landis P, Yu H, et al. Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer. Eur Urol. 2019;75(5):743–9.

Article  CAS  PubMed  Google Scholar 

Rajwa P, Pradere B, Quhal F, Mori K, Laukhtina E, Huebner NA, et al. Reliability of Serial Prostate Magnetic Resonance Imaging to Detect Prostate Cancer Progression During Active Surveillance: A Systematic Review and Meta-analysis. Eur Urol. 2021;80(5):549–63.

Article  PubMed  Google Scholar 

Halstuch D, Ber Y, Kedar D, Golan S, Baniel J, Margel D. Short-Term Outcomes of Active Surveillance for Low Risk Prostate Cancer among Men with Germline DNA Repair Gene Mutations. J Urol. 2020;204(4):707–13.

Article  PubMed  Google Scholar 

Castro E, Goh C, Leongamornlert D, Saunders E, Tymrakiewicz M, Dadaev T, et al. Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer. Eur Urol. 2015;68(2):186–93.

Article  CAS  PubMed  Google Scholar 

Berchuck JE, Zhang Z, Silver R, Kwak L, Xie W, Lee GM, et al. Impact of Pathogenic Germline DNA Damage Repair alterations on Response to Intense Neoadjuvant Androgen Deprivation Therapy in High-risk Localized Prostate Cancer. Eur Urol. 2021;80(3):295–303.

Article  CAS  PubMed  Google Scholar 

de Bono J, Mateo J, Fizazi K, Saad F, Shore N, Sandhu S, et al. Olaparib for metastatic castration-resistant prostate cancer. N Engl J Med. 2020;382(22):2091–102.

Article  PubMed  Google Scholar 

Clarke N, Wiechno P, Alekseev B, Sala N, Jones R, Kocak I, et al. Olaparib combined with abiraterone in patients with metastatic castration-resistant prostate cancer: a randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol. 2018;19(7):975–86.

Article  CAS  PubMed  Google Scholar 

Fizazi K, Piulats JM, Reaume MN, Ostler P, McDermott R, Gingerich JR, et al. Rucaparib or physician’s choice in metastatic prostate cancer. N Engl J Med. 2023;388(8):719–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Agarwal N, Azad AA, Carles J, Fay AP, Matsubara N, Heinrich D, et al. Talazoparib plus enzalutamide in men with first-line metastatic castration-resistant prostate cancer (TALAPRO-2): a randomised, placebo-controlled, phase 3 trial. Lancet. 2023; https://doi.org/10.1016/S0140-6736(23)01055-3.

Article  PubMed  Google Scholar 

Chi KN, Sandhu S, Smith MR, Attard G, Saad M, Olmos D, et al. Niraparib plus abiraterone acetate with prednisone in patients with metastatic castration-resistant prostate cancer and homologous recombination repair gene alterations: second interim analysis of the randomized phase III MAGNITUDE trial. Ann Oncol. 2023; https://doi.org/10.1016/j.annonc.2023.06.009.

Article  PubMed  Google Scholar 

Zumsteg Z, Karrison T, Michaelson MD, Tran P, Kudchadker R, Feng F. 689TiP NRG Oncology’s GU007 (NADIR): A randomized phase II trial of niraparib with standard combination androgen deprivation therapy (ADT) and radiotherapy (RT) in high-risk prostate cancer (PC) (with initial phase I). Annals of Oncology, Volume 31, Supplement 4, S546, September 2020.

Rathkopf DE, Chi KN, Olmos D, Cheng HH, Agarwal N, Graff JN, et al. AMPLITUDE: A study of niraparib in combination with abiraterone acetate plus prednisone (AAP) versus AAP for the treatment of patients with deleterious germline or somatic homologous recombination repair (HRR) gene-altered metastatic castration-sensitive prostate cancer (mCSPC). Journal of Clinical Oncology 39, no. 6_suppl.

Antonarakis ES, Wang H, Teply BA, Kelly WK, Willms J, Sullivan R, et al. Interim results from a phase 2 study of olaparib (without ADT) in men with biochemically-recurrent prostate cancer after prostatectomy, with integrated biomarker analysis.: Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019) 5045–5045.

Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, et al. Mismatch repair deficiency predicts response of solid tumors to PD‑1 blockade. Science. 2017;357(6349):409–13.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Marcus L, Lemery SJ, Keegan P, Approval Summary PRFDA. Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors. Clin. Cancer Res. 2019;25(13):3753–8.

CAS  Google Scholar 

Abida W, Cheng ML, Armenia J, Middha S, Autio KA, Vargas HA, et al. Analysis of the prevalence of microsatellite instability in prostate cancer and response to immune checkpoint blockade. JAMA Oncol. 2019;5(4):471–8.

Article  PubMed  Google Scholar 

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