DRG Mutations in Prostate Cancer: a Guiding Light for Enhanced Screening and Personalised Therapy

NCT07265414 | Active Not Recruiting

• 1 other identifier: IG 2020 ID 25027
• Study Type: observational
• Target: 320
• Locations: 1 country
• Sites: 1

Brief Summary

At the present moment, there is no international consensus on the optimal screening to perform in men with a specific genetic/molecular risk for PCa. The number of studies exploring screening strategies tailored to men with a family history for PCa is limited \[15-17\]: most of them support the use of targeted screening but methodological differences make it impossible to draw conclusions from these data \[18-25\]. On the basis of these considerations, we believe extremely important to investigate a new approach to sort out men who will most benefit from early diagnosis. The optimization of such an approach could generate several benefits to the health service, by both reducing overdiagnosis and overtreatment in low-risk patients and decreasing the risk of underdiagnosis and undertreatment in genetically selected high-risk patients. Indeed, men with DRG mutations have higher grade and higher stage at time of diagnosis, limiting the possibility of care \[2\]. In the present study, we will test the hypothesis that a dedicated screening in patients with a DRG mutation, by the combination of PHI and mp-MRI, could be more effective in the PCa early detection than the current approach (DRE and PSA). We hypothesise that this targeted screening could improve the rate of early detection in PCa-positive men and increase the consequent number of curable diseases.

Conditions

Bladder Cancer; Prostate Cancer

Keywords

Prostate Bladder Screening DNA

Outcome Measures

Primary Outcomes (1)

• Detection of prostate cancer

  Detection of prostate cancer and screening

  5 years

Study Arms (1)

Patients with prostate cancer

Patients with BRCA2 variants

Diagnostic Test: Screening Platform

Interventions

Screening Platform DIAGNOSTIC_TEST

Screening

Patients with prostate cancer

Eligibility Criteria

• Age: 35 Years - 70 Years
• Gender Eligibility Details: Male with relatives affected by prostate cancer
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

* Contraindication absolute or relative to mpMRI * Active perineal/pelvic inflammatory disease * Urethral stricture or previous surgery for urethral surgery. * Subjects with chronic renal failure, marked blood protein alterations (plasma normal range 6-8 g/100 mL), hemophiliacs, or those previously submitted to multiple blood transfusions were not included in the study, as these conditions may alter the PHI analysis. * Any other condition that in the judgment of the investigators would interfere with the subject's ability to provide informed consent, comply with study instructions, place the subject at increased risk, or which might confound interpretation of study results

You may qualify if:

• \- The following men will be screened for DRG mutations.
• Males between the ages of 35 and 75 suffering from prostate cancer diagnosis with GS (Gleason Score) ≥ 4+3 willing to undergo screening for a mutation in one of the DNA repair genes (DRG);
• Males under the age of 50 suffering from prostate cancer diagnosis with GS ≥ 3 +3 willing to undergo screening for a DRG mutation;
• Consanguineous of males who, as a result of prostate biopsy and/or radical prostatectomy, have been diagnosed with prostate cancer with GS ≥ 4 + 3 and positive for a DRG mutation;
• Consanguineous of males who following a prostate biopsy and/or radical prostatectomy had a diagnosis of prostatic cancer before the age of 50 with GS ≥ 3 +3 and positive for a DRG mutation.
• Males and females older 18 yrs presenting with primary or secondary BC willing to undergo screening for a mutation in one of the DNA repair genes (DRG);
• Males consanguineous of males and females who had a diagnosis of bladder cancer and positive for a DRG mutation
• Males between the ages of 35 and 75 belonging to a family where a BRCA1/2 and/or DRG mutations has already been detected in at least one female (this screening has been and will be performed according to the AIOM 2019/NCCN 2019 guidelines, as for good clinical practice in our oncology center)

Sponsors & Collaborators

• Istituto Clinico Humanitas: lead
• Fondazione Humanitas per la Ricerca: collaborator

Study Sites (1)

IRCCS Humanitas Research Hospital

Milan, 20089, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Exome analysis

MeSH Terms

Conditions

Prostatic Neoplasms; Urinary Bladder Neoplasms

Condition Hierarchy (Ancestors)

Genital Neoplasms, Male; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Prostatic Diseases; Male Urogenital Diseases; Urologic Neoplasms; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urinary Bladder Diseases; Urologic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 24, 2025
• First Posted: December 4, 2025
• Study Start: January 1, 2021
• Primary Completion: January 1, 2026
• Study Completion: January 1, 2026
• Last Updated: December 4, 2025

Record last verified: 2025-11

Locations

IT (1)