The aim of the study is to identify genetic variants in genes responsible or potentially responsible for the etiology of prostate cancer in a population of patients with early onset of the malignancy.
The data collected from the study will provide a preliminary picture of the prevalence and type of germline pathological variants in the context of early-onset prostate cancer in the Italian population. In addition, alterations in DNA repair genes other than BRCA1-2 and ATM, including any genes yet undescribed as causative or predisposing, have yet to be explored in detail: in many cases the significance of variants is not well defined in terms of pathogenicity, prognostic value, and predictive indicator of response to different treatments. Therefore, an extensive mutational analysis-even if performed on a limited number of patients-can generate a large number of variants for evaluation, bringing knowledge about the relationship between these variants and the onset of malignancy The information obtained, although merely exploratory, may indicate the desirability of conducting systematic genetic investigations in this particular patient population in the future, especially in view of the new therapeutic strategies available such as immunotherapy or PARP inhibitors
Study Type
OBSERVATIONAL
Enrollment
50
The first level of investigation will focus on genes already described in cases of pathogenic germline variants of prostate cancer and/or DNA repair system genes. The second level of investigation will consider variants in genes known to confer increased risk of cancer development, e.g., genes listed in the UK health system's solid tumor predisposition gene panel. Finally, pathogenic/probably pathogenic variants in the exome in genes attributable to increased risk will be evaluated on the basis of molecular pathway and findings in the scientific literature.
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy
Presence/absence and type of pathogenic/probably pathogenic germline variants in genes previously implicated in prostate cancer etiology
molecular analysis of genomic DNA
Time frame: 4 years
Presence/absence and type of variants in genes potentially implicated in the etiology of prostate cancer (candidate genes).
molecular analysis of genomic DNA
Time frame: 4 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.