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

NCT ID: NCT05231915

Last Updated: 2024-08-20

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 465 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-04-09
• Study Completion Date: 2025-04-09

Brief Summary

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 .

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.

Conditions

Prostate Cancer

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

HOXB13 c.853delT mutation

Mutation is detected using Next Generation Sequencing (NGS) technique

Group Type: OTHER

HOXB13 c.853delT mutation

Intervention Type: GENETIC

Identify the Allelic frequency of the HOXB13 c.853delT mutation in patients with a cancer prostate in Martinique

Interventions

HOXB13 c.853delT mutation

Identify the Allelic frequency of the HOXB13 c.853delT mutation in patients with a cancer prostate in Martinique

Intervention Type: GENETIC

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

University Hospital Center of Martinique

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Centre Hospitalier Universitaire de Martinique

Fort-de-France, , Martinique

Site Status: RECRUITING

Countries

Martinique

Central Contacts

Régine MARLIN

Role: CONTACT

regine.marlin@chu-martinique.fr

+596 596 30 67 35

Mickaëlle ROSE

Role: CONTACT

mickaelle.rose@chu-martinique.fr

+596 596 59 26 23

Facility Contacts

Régine MARLIN, PhD

Role: primary

regine.marlin@chu-martinique.fr

0596 30 67 35 ext. +596

Mickaëlle ROSE, MsC

Role: backup

mickaelle.rose@chu-martinique.fr

0596 59 26 23 ext. 596

Other Identifiers

19_RIPH2_14

Identifier Type: -

Identifier Source: org_study_id