Prevalence of the c.853delT Mutation of the HOXB13 Gene in Prostate Cancer in Martinique (HOXB13_Mart)

In Martinique, prostate cancer incidence rates are nowadays among the highest worldwide with a high incidence of early-onset and familial forms. We identified a rare heterozygous germline variant c.853delT (p.Ter285Lysfs) rs77179853, reported only among patients of African ancestry with a minor allele frequency of 3.2%. We search to estimate the prevalence of this variant in a sample of prevalent prostate cancer cases managed in urology consultation in Martinique .

Study Overview

• Status: Recruiting
• Conditions: Prostate Cancer
• Intervention / Treatment: Genetic: HOXB13 c.853delT mutation

Detailed Description

In Martinique, prostate cancer incidence rates are nowadays among the highest worldwide with a high incidence of early-onset and familial forms. Despite the demonstration of a strong familial component, identification of the genetic basis for hereditary prostate cancer is challenging. The screening of the HOXB13 gene is recommended for men who develop an early-onset and/or familial Pca . In fact, the HOXB13 germline variant G84E (rs138213197) was described in men of European descent with prostate cancer risk. Other germline variants were detected in ethnic groups. More recently, we reported a rare HOXB13 mutation, specifically c.853delT (pTer285Lysfs) that appears to be contribute to young Prostate Cancer cases in Martinique. This variant is a stop loss reported only among patients of African ancestry .

Regarding the allele frequency of the HOXB13 c.853delT variant observed in the Pca cohort, it will be necessary to assess relative and absolute Pca risks for HOXB13 c.853delT carriers. This information is essential to use this variant in genetic counseling. We propose to sequence the HOXB13 gene of all prostate cancers cases managed in urology consultation in Martinique.

• Study Type: Interventional
• Enrollment (Estimated): 465
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Régine MARLIN; Phone Number: +596 596 30 67 35; Email: regine.marlin@chu-martinique.fr
• Study Contact Backup: Name: Mickaëlle ROSE; Phone Number: +596 596 59 26 23; Email: mickaelle.rose@chu-martinique.fr

Study Locations

• Martinique
  • Fort-de-France, Martinique, 97261
    • Recruiting
    • Centre Hospitalier Universitaire de Martinique
    • Contact: Régine MARLIN, PhD; Phone Number: +596 0596 30 67 35; Email: regine.marlin@chu-martinique.fr
    • Contact: Mickaëlle ROSE, MsC; Phone Number: 596 0596 59 26 23; Email: mickaelle.rose@chu-martinique.fr
    • Sub-Investigator: Odile BERA
    • Sub-Investigator: Johan ROSE-DITE-MODESTINE
    • Sub-Investigator: Stefanos BOUGAS

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Adult man over 18 years of age living in Martinique with a prostate cancer whatever the histological type and the stage, managed in urology consultation (public and private sectors of Martinique)
• Sporadic or familial form
• Informed with a written consent signed by the participant and the investigator
• Affiliate or beneficiary of french social security.

Exclusion Criteria:

• Patient who is not of African descent
• Refusal to participate.
• Patients not affiliated to french social security

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: HOXB13 c.853delT mutation; Mutation is detected using Next Generation Sequencing (NGS) technique	Genetic: HOXB13 c.853delT mutation; Identify the Allelic frequency of the HOXB13 c.853delT mutation in patients with a cancer prostate in Martinique

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Estimation of prevalence of Allelic frequency of the HOXB13 c.853delT mutation	Mutation is detected using Next Generation Sequencing (NGS) technique	At baseline

Collaborators and Investigators

• Sponsor: University Hospital Center of Martinique

Study record dates

Study Major Dates

• Study Start (Actual): April 9, 2021
• Primary Completion (Estimated): April 9, 2025
• Study Completion (Estimated): April 9, 2025

Study Registration Dates

• First Submitted: February 1, 2022
• First Submitted That Met QC Criteria: February 1, 2022
• First Posted (Actual): February 9, 2022

Study Record Updates

• Last Update Posted (Actual): October 17, 2023
• Last Update Submitted That Met QC Criteria: October 16, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Keywords: Prostate cancer; Martinique; HOXB13 c.853delT prevalence
• Additional Relevant MeSH Terms: Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Genital Neoplasms, Male; Prostatic Diseases; Urogenital Diseases; Male Urogenital Diseases; Genital Diseases, Male; Genital Diseases; Prostatic Neoplasms
• Other Study ID Numbers: 19_RIPH2_14

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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