Mexico reported 26,742 new cases of prostate cancer in 2020. Different risk factors have been identified in the pathogenesis of prostate cancer. Among them, genetic factors and alterations or mutations in specific genes have been described in different ethnic groups worldwide. The aim of our study is to report the prevalence of germline DNA-repair gene mutations in Mexican patients with prostate cancer.
We performed germline genetic testing in 50 patients with localized prostate cancer and 50 patients with metastatic prostate cancer. Demographic, clinical, and histopathological data were collected.
Thirty-seven germline mutations were identified in 32 patients. The most commonly affected genes were ATM in 6%, followed by FANCA (5%), and ATR (4%). BRCA2 mutations were identified in 3%. The frequency of mutations was higher in the metastatic group.
The results of our study show different mutations from those reported in different populations or regions. The use of PARP inhibitors is indicated in patients with germline mutations, specifically BRCA2, showing improvement in overall survival and progression free survival. To our knowledge, this is the first study reporting the prevalence of mutations in DNA-repair genes in Mexican patients with prostate cancer.
Actas urologicas espanolas. 2024 May 10 [Epub ahead of print]
P Cruz Garcia Villa, A Izunza Laisequilla, E Puga Ortega, C Alaez Verson
Servicio de Urología, Hospital Regional Lic. Adolfo López Mateos, ISSSTE, Ciudad de México, Mexico. Electronic address: ., Servicio de Urología, Hospital Regional Lic. Adolfo López Mateos, ISSSTE, Ciudad de México, Mexico., Departamento de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Ciudad de México, Mexico.