Prostate cancer (PC) is one of the most prevalent tumours in the world, however, the hereditary (Hereditary PC; HPC) form is a rare pathology, that does not exceed 6%. Despite its very low incidence, a family history of PC in a first-degree relative multiplies the risk of suffering from PC by approximately two-fold. Therefore, the search for genetic variables associated with the detection, monitoring and treatment of the condition is paramount. In this study, we conduct deep screening of exomes by next-generation sequencing (NGS) analysis in search of new biomarkers. We performed this analysis in a family with a high incidence of PC. Our data reveal that variants in some genes, such as HIBCH and DPP4, are present in all HPC patients. Moreover, high-risk patients have unique additional variants, such as FANK1, TUBA3FP and ALDH3B2. These results provide a new set of promising biomarkers in HCP.

The androgenic signalling pathway is essential for carcinogenesis and tumour development in prostate cancer (PC). The importance of that pathway makes it the main target of treatments against PC, among which androgen deprivation therapy (ADT) stands out. The heterogeneity of the response against the same treatment shows the importance of the search for molecular biomarkers, which enable the prediction of the response to the therapy in each case. This work focuses on the characterization of the response to treatment in several patients of PC through the analysis of different genetic variants (rs10877012 (CYP27B1); rs3768490 (GSTM5); rs1004446 (IGF2)). The statistical analysis revealed a certain tendency to resistance in A/G genotype carriers in rs1004446 (IGF2). Furthermore, a significant statistical relation between aggressive phenotypes was confirmed in single nucleotide polymorphism (SNP) rs10877012 (CYP27B1, p = 0.013).