BRCA1 and BRCA2 mutations testing in prostate cancer: Detection in formalin fixed paraffin embedded (FFPE) and blood
Giuseppa Zannini1, Gaetano Facchini2, Marco De Sio3
1Pathology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Via L. Armanni 5, Naples 80138, Italy.
Abstract:
Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline BRCA1/2 mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic BRCA1/2 mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors. This review provides a comprehensive overview of BRCA1/2 mutations testing in PC, focusing on the germline and somatic mutations frequencies and the technical approach for their identification. A revision of the main data reported in the literature regarding BRCA1/2 mutations identification will be presented, highlighting the critical issue for the detection both in formalin fixed paraffin embedded (FFPE) and blood samples.
