Real-world data on the prevalence of BRCA1/2 and HRR gene mutations in patients with primary and metastatic castration resistant prostate cancer.
World J Urol
; 42(1): 491, 2024 Aug 22.
Article
en En
| MEDLINE
| ID: mdl-39172235
ABSTRACT
PURPOSE:
This study seeks to contribute real-world data on the prevalence of BRCA1/2 and HRR gene mutations in prostate cancer.METHODS:
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).RESULTS:
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.CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteína BRCA1
/
Proteína BRCA2
/
Neoplasias de la Próstata Resistentes a la Castración
Límite:
Aged
/
Aged80
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
World J Urol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Alemania