Genetics of Prostate Cancer in Young Patients (ProK55)

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.

Study Overview

• Status: Completed
• Conditions: Prostate Carcinoma
• Intervention / Treatment: Genetic: Molecular analysis of genomic DNA (exome sequencing) from peripheral blood sample

Detailed Description

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 (Actual): 50

Contacts and Locations

Study Locations

• Italy
  • Bologna, Italy, 40138
    • IRCCS Azienda Ospedaliero-Universitaria di Bologna

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study population will consist of patients aged 18 years or older with a diagnosis of prostate cancer and age ≤55 years at first diagnosis.

Description

Inclusion Criteria:

• Patients with histologic or cytologic diagnosis of prostate cancer
• Age ≥18 years and ≤55 years at first diagnosis of prostate carcinoma
• Availability of clinical and instrumental data related to prostate cancer
• Patients who knowingly express willingness to participate in the study after signing written informed consent

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Patients diagnosed with prostate carcinoma before the age of 55; Exome sequencing (WES) of genomic DNA

Genetic: Molecular analysis of genomic DNA (exome sequencing) from peripheral blood sample; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence/absence and type of pathogenic/probably pathogenic germline variants in genes previously implicated in prostate cancer etiology	molecular analysis of genomic DNA	4 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence/absence and type of variants in genes potentially implicated in the etiology of prostate cancer (candidate genes).	molecular analysis of genomic DNA	4 years

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Cesare Rossi, Biologist, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): September 25, 2023
• Primary Completion (Actual): June 11, 2024
• Study Completion (Actual): September 30, 2024

Study Registration Dates

• First Submitted: November 28, 2024
• First Submitted That Met QC Criteria: November 28, 2024
• First Posted (Actual): December 3, 2024

Study Record Updates

• Last Update Posted (Actual): December 3, 2024
• Last Update Submitted That Met QC Criteria: November 28, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Genital Neoplasms, Male; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Genital Diseases, Male; Prostatic Diseases; Male Urogenital Diseases; Prostatic Neoplasms
• Other Study ID Numbers: ProK55; RC 2022-2024 (Other Grant/Funding Number: Ministero della Salute)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: IPD not included in the protocol approved by the ethics committee

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No