Real-world data on the prevalence of BRCA1/2 and HRR gene mutations in patients with primary and metastatic castration resistant prostate cancer.


Journal

World journal of urology
ISSN: 1433-8726
Titre abrégé: World J Urol
Pays: Germany
ID NLM: 8307716

Informations de publication

Date de publication:
22 Aug 2024
Historique:
received: 16 05 2024
accepted: 19 07 2024
medline: 22 8 2024
pubmed: 22 8 2024
entrez: 22 8 2024
Statut: epublish

Résumé

This study seeks to contribute real-world data on the prevalence of BRCA1/2 and HRR gene mutations in prostate cancer. We compiled sequencing data of 197 cases of primary and metastatic prostate cancer, in which HRR mutation analysis was performed upon clinical request within the last 5 years. All cases were analyzed using a targeted NGS BRCAness multigene panel, including 8 HRR genes (ATM, BRCA1, BRCA2, CDK12, CHEK2, FANCA, HDAC2, PALB2). Our findings reveal a prevalence of potentially targetable mutations based on FDA criteria of 20.8%, which is comparable to the literature. However, the frequency of targetable BRCA2 mutations within our cohort was lower than reported for mCRPC and ATM and CHEK2 mutations were more prevalent instead. Thus, while 20.8% (n = 38) of the cases meet the criteria for olaparib treatment per FDA approval, only 4.9% (n = 9) align with the eligibility criteria according to the EMA approval. This study offers valuable real-world insights into the landscape of BRCA1/2 and HRR gene mutations and the practical clinical management of HRR gene testing in prostate cancer, contributing to a better understanding of patient eligibility for PARPi treatment.

Identifiants

pubmed: 39172235
doi: 10.1007/s00345-024-05188-7
pii: 10.1007/s00345-024-05188-7
doi:

Substances chimiques

BRCA2 Protein 0
BRCA1 Protein 0
BRCA2 protein, human 0
BRCA1 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

491

Informations de copyright

© 2024. The Author(s).

Références

de Bono J, Mateo J, Fizazi K et al (2020) Olaparib for metastatic castration-resistant prostate Cancer. N Engl J Med 382:2091–2102. https://doi.org/10.1056/nejmoa1911440
doi: 10.1056/nejmoa1911440 pubmed: 32343890
Hussain M, Mateo J, Fizazi K et al (2020) Survival with Olaparib in Metastatic Castration-resistant prostate Cancer. N Engl J Med 383:2345–2357. https://doi.org/10.1056/nejmoa2022485
doi: 10.1056/nejmoa2022485 pubmed: 32955174
Saad F, Clarke NW, Oya M et al (2023) Olaparib plus abiraterone versus placebo plus abiraterone in metastatic castration-resistant prostate cancer (PROpel): final prespecified overall survival results of a randomised, double-blind, phase 3 trial. Lancet Oncol 24:1094–1108. https://doi.org/10.1016/S1470-2045(23)00382-0
doi: 10.1016/S1470-2045(23)00382-0 pubmed: 37714168
European Medicines Agency Lynparza Product Information. https://www.ema.europa.eu/en/documents/product-information/lynparza-epar-product-information_en.pdf
Fallah J, Xu J, Weinstock C et al (2024) FDA approval Summary: Olaparib in Combination with Abiraterone for treatment of patients with BRCA -Mutated metastatic castration-resistant prostate Cancer. J Clin Oncol 42:605–613. https://doi.org/10.1200/JCO.23.01868
doi: 10.1200/JCO.23.01868 pubmed: 38127780
US Food and Drug Administration: FDA approves olaparib with abiraterone and prednisone (or prednisolone) for BRCA-mutated metastatic castration-resistant prostate cancer (2023) https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-olaparib-abiraterone-and-prednisone-or-prednisolone-brca-mutated-metastatic-castration
Chi KN, Sandhu S, Smith MR et al (2023) 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 34:772–782. https://doi.org/10.1016/j.annonc.2023.06.009
doi: 10.1016/j.annonc.2023.06.009 pubmed: 37399894
Agarwal N, Azad AA, Carles J et al (2023) Talazoparib plus Enzalutamide in men with first-line metastatic castration-resistant prostate cancer (TALAPRO-2): a randomised, placebo-controlled, phase 3 trial. Lancet 402:291–303. https://doi.org/10.1016/S0140-6736(23)01055-3
doi: 10.1016/S0140-6736(23)01055-3 pubmed: 37285865
Robinson D, Van Allen EM, Wu YM et al (2015) Integrative clinical genomics of advanced prostate cancer. Cell 161:1215–1228. https://doi.org/10.1016/J.CELL.2015.05.001
doi: 10.1016/J.CELL.2015.05.001 pubmed: 26000489 pmcid: 4484602
Taylor BS, Schultz N, Hieronymus H et al (2010) Integrative genomic profiling of human prostate cancer. Cancer Cell 18:11–22. https://doi.org/10.1016/J.CCR.2010.05.026
doi: 10.1016/J.CCR.2010.05.026 pubmed: 20579941 pmcid: 3198787
Abeshouse A, Ahn J, Akbani R et al (2015) The Molecular Taxonomy of primary prostate Cancer. Cell 163:1011–1025. https://doi.org/10.1016/j.cell.2015.10.025
doi: 10.1016/j.cell.2015.10.025
Quigley DA, Dang HX, Zhao SG et al (2018) Genomic Hallmarks and Structural Variation in metastatic prostate Cancer. Cell 174:758–769e9. https://doi.org/10.1016/j.cell.2018.06.039
doi: 10.1016/j.cell.2018.06.039 pubmed: 30033370 pmcid: 6425931
Armenia J, Wankowicz SAM, Liu D et al (2018) The long tail of oncogenic drivers in prostate cancer. Nat Genet 50:645–651. https://doi.org/10.1038/s41588-018-0078-z
doi: 10.1038/s41588-018-0078-z pubmed: 29610475 pmcid: 6107367
Mateo J, Carreira S, Sandhu S et al (2015) DNA-Repair defects and Olaparib in metastatic prostate Cancer. N Engl J Med 373:1697–1708. https://doi.org/10.1056/nejmoa1506859
doi: 10.1056/nejmoa1506859 pubmed: 26510020 pmcid: 5228595
Pritchard CC, Mateo J, Walsh MF et al (2016) Inherited DNA-Repair gene mutations in men with metastatic prostate Cancer. N Engl J Med 375:443–453. https://doi.org/10.1056/nejmoa1603144
doi: 10.1056/nejmoa1603144 pubmed: 27433846 pmcid: 4986616
Castro E, Romero-Laorden N, Del Pozo A et al (2019) PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate Cancer. J Clin Oncol 37:490–503. https://doi.org/10.1200/JCO.18.00358
doi: 10.1200/JCO.18.00358 pubmed: 30625039
Abida W, Cyrta J, Heller G et al (2019) Genomic correlates of clinical outcome in advanced prostate cancer. Proc Natl Acad Sci U S A 116:11428–11436. https://doi.org/10.1073/pnas.1902651116/-/DCSupplemental
doi: 10.1073/pnas.1902651116/-/DCSupplemental pubmed: 31061129 pmcid: 6561293
Wu Y, Yu H, Li S et al (2020) Rare germline pathogenic mutations of DNA repair genes are most strongly Associated with Grade Group 5 prostate Cancer. Eur Urol Oncol 3:224–230. https://doi.org/10.1016/j.euo.2019.12.003
doi: 10.1016/j.euo.2019.12.003 pubmed: 31948886
Na R, Zheng SL, Han M et al (2017) Germline mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and indolent prostate Cancer and are Associated with early age at death. Eur Urol 71:740–747. https://doi.org/10.1016/j.eururo.2016.11.033
doi: 10.1016/j.eururo.2016.11.033 pubmed: 27989354
Mateo J, Boysen G, Barbieri CE et al (2017) DNA repair in prostate Cancer: Biology and Clinical implications. Eur Urol 71:417–425. https://doi.org/10.1016/j.eururo.2016.08.037
doi: 10.1016/j.eururo.2016.08.037 pubmed: 27590317
Mateo J, Porta N, Bianchini D et al (2020) Olaparib in patients with metastatic castration-resistant prostate cancer with DNA repair gene aberrations (TOPARP-B): a multicentre, open-label, randomised, phase 2 trial. Lancet Oncol 21:162–174. https://doi.org/10.1016/S1470-2045(19)30684-9
doi: 10.1016/S1470-2045(19)30684-9 pubmed: 31806540 pmcid: 6941219
Abida W, Campbell D, Patnaik A et al (2019) 846PD - preliminary results from the TRITON2 study of rucaparib in patients (pts) with DNA damage repair (DDR)-deficient metastatic castration-resistant prostate cancer (mCRPC): updated analyses. Ann Oncol 30:v327–v328. https://doi.org/10.1093/annonc/mdz248.003
doi: 10.1093/annonc/mdz248.003
Smith MR, Scher HI, Sandhu S et al (2022) Niraparib in patients with metastatic castration-resistant prostate cancer and DNA repair gene defects (GALAHAD): a multicentre, open-label, phase 2 trial. Lancet Oncol 23:362–373. https://doi.org/10.1016/S1470-2045(21)00757-9
doi: 10.1016/S1470-2045(21)00757-9 pubmed: 35131040 pmcid: 9361481
Marshall CH, Sokolova AO, McNatty AL et al (2019) Differential Response to Olaparib Treatment among men with metastatic castration-resistant prostate Cancer harboring BRCA1 or BRCA2 Versus ATM mutations. Eur Urol 76:452–458. https://doi.org/10.1016/j.eururo.2019.02.002
doi: 10.1016/j.eururo.2019.02.002 pubmed: 30797618 pmcid: 6703974
De Bono JS, Mehra N, Higano CS et al (2020) TALAPRO-1: a phase II study of talazoparib (TALA) in men with DNA damage repair mutations (DDRmut) and metastatic castration-resistant prostate cancer (mCRPC)—First interim analysis (IA). J Clin Oncol 38:119. https://doi.org/10.1200/JCO.2020.38.6_suppl.119
doi: 10.1200/JCO.2020.38.6_suppl.119
Luo J, Antonarakis ES (2019) PARP inhibition — not all gene mutations are created equal. Nat Rev Urol 16:4–6. https://doi.org/10.1038/s41585-018-0129-3
doi: 10.1038/s41585-018-0129-3 pubmed: 30498248 pmcid: 7959484

Auteurs

Moritz Hommerding (M)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Oliver Hommerding (O)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Marit Bernhardt (M)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Tobias Kreft (T)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Christine Sanders (C)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Verena Tischler (V)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Patrick Basitta (P)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Natalie Pelusi (N)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Anna-Lena Wulf (AL)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany.

Carsten-Henning Ohlmann (CH)

Department of Urology, Johanniter-Kliniken Bonn, Bonn, Germany.

Jörg Ellinger (J)

Department of Urology, University Hospital Bonn, Bonn, Germany.

Manuel Ritter (M)

Department of Urology, University Hospital Bonn, Bonn, Germany.

Glen Kristiansen (G)

Institute of Pathology, University Hospital Bonn (UKB), Venusberg-Campus 1, Bonn, 53127, Germany. glen.kristiansen@ukbonn.de.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH