Abstract

SORIA-PENALOZA, Yanet et al. Identification of BRCA 1 AND BRCA 2 gene variants in patients with castration-resistant prostate cancer at the Hospital Central Militar. Rev. sanid. mil. [online]. 2022, vol.76, n.2, e02.  Epub Feb 03, 2023. ISSN 0301-696X.  https://doi.org/10.56443/rsm.v76i2.299.

Metastatic castration-resistant prostate cancer (CRPC) is a heterogeneous lethal neoplasm among men. 30% of tumors harbor deleterious errors in genes involved in the DNA damage response (DDR). Some of these cancer-associated genes are BRCA 1 and BRCA 2. Mutations to these genes favor loss or modification of function causing a permanent and transmissible change, leading to the development of aggressive prostate cancer. The aim of the study was to identify by Next-generation sequencing (NGS) BRCA 1 and BRCA 2 gene variants in peripheral blood of patients with CRPC at the Hospital Central Militar. Importantly, the results demonstrated a number of clinical alterations, as well as a loss of function of proteins related to DNA repair mechanisms. Interestingly, some of the variants in the BRCA gene, reported here, are of uncertain significance, which has been reported to us for the first time.

Keywords : Prostate cancer; metastatic castration-resistant prostate cancer; BRCA 1 and BRCA 2; NGS.