Prostate Cancer Genetic Risk Evaluation and Screening Study

NCT05129605 | Recruiting

• 1 other identifier: 2020P000081
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black/African ancestry and evaluate the utility of prostate MRI as a screening tool. The hypothesis is that this targeted population of men are at elevated risk of developing prostate cancer compared to the general population, and enhanced screening with MRI will enable early detection and diagnosis of potentially aggressive prostate cancer, characterization of the penetrance of specific mutations, and potentially identify new genetic risk mutations.

Conditions

Prostatic Neoplasm; Prostate Cancer; BRCA2 Mutation; BRCA1 Mutation; ATM Gene Mutation; MMR Mutation; Lynch Syndrome; Genetic Predisposition to Disease

Keywords

BRCA2; BRCA1; Mismatch Repair Deficiency; Lynch Syndrome; HOXB13; Family History of Prostate Cancer

Outcome Measures

Primary Outcomes (1)

• Diagnosis of prostate cancer

  Diagnosis of overall and clinically significant (grade group 2 or higher) prostate cancer

  From date of enrollment until date of diagnosis of prostate cancer or age of 75 reached, which ever came first

Secondary Outcomes (1)

• Positive predictive value of multiparametric MRI for detection of prostate cancer

  From date of enrollment until date of diagnosis of prostate cancer or age of 75 reached, which ever came first

Study Arms (3)

Cohort A

Documented germline known pathogenic or likely pathogenic mutation in a prostate cancer related risk gene

Diagnostic Test: Prostate cancer screening

Cohort B

Family history suggestive of high genetic risk for prostate cancer with clinical genetic testing negative for known pathogenic or likely pathogenic mutations in prostate cancer-related risk genes

Diagnostic Test: Prostate cancer screening

Cohort C

Individuals who self-identify as Black American or Black Caribbean with both parents and all four grandparents of Black/African ancestry

Diagnostic Test: Prostate cancer screening

Interventions

Prostate cancer screening DIAGNOSTIC_TEST

Physical exam (digital rectal exam), prostate-specific antigen (PSA) and PSA derivatives, and multiparametric MRI of the prostate

Cohort A; Cohort B; Cohort C

Eligibility Criteria

• Age: 35 Years - 74 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Men ages 35-74 years old at high genetic risk for prostate cancer on the basis of a specific germline genetic mutation or a strong family history.

You may qualify if:

• Men 35-74 years old
• No known diagnosis of prostate cancer
• Life expectancy \>10 years
• Meet cohort A, B, or C criteria
• Cohort A: Documented pathogenic or likely pathogenic germline genetic mutation in a prostate cancer risk gene from a CLIA-certified laboratory (ATM, ATR, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, FANCA, GEN1, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53)
• Cohort B: A strong family history suggestive of high genetic risk for prostate cancer with negative clinical genetic testing
• Cohort C: Individuals who self-identify as Black American or Black Caribbean with both parents and all four grandparents of Black/African ancestry

You may not qualify if:

• Prior diagnosis or treatment of prostate cancer
• Inability to undergo prostate MRI
• Inability to receive MRI contrast agent

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

Related Publications (2)

• Amini AE, Salari K. Incorporating Genetic Risk Into Prostate Cancer Care: Implications for Early Detection and Precision Oncology. JCO Precis Oncol. 2024 Feb;8:e2300560. doi: 10.1200/PO.23.00560.

  PMID: 38412389 BACKGROUND

• Amini AE, Hunter AE, Almashad A, Feng AJ, Patel ND, O'Dea MR, McCormick SR, Rodgers LH, Salari K. Magnetic Resonance Imaging-based Prostate Cancer Screening in Carriers of Pathogenic Germline Mutations: Interim Results from the Initial Screening Round of the Prostate Cancer Genetic Risk Evaluation and Screening Study. Eur Urol Oncol. 2024 Dec;7(6):1358-1366. doi: 10.1016/j.euo.2024.01.015. Epub 2024 Mar 6.

  PMID: 38453598 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

* Blood and urine on all subjects * Tumor tissue on subjects who develop prostate cancer

MeSH Terms

Conditions

Prostatic Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis; Genetic Predisposition to Disease; Turcot syndrome

Condition Hierarchy (Ancestors)

Genital Neoplasms, Male; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Prostatic Diseases; Male Urogenital Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Keyan Salari, MD, PhD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Olympia Price

CONTACT

857-238-3838; oprice@partners.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Urologic Oncology

Study Record Dates

• First Submitted: November 2, 2021
• First Posted: November 22, 2021
• Study Start: February 12, 2020
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2040
• Last Updated: October 9, 2024

Record last verified: 2024-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)