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

Last updated: August 19, 2024
Sponsor: University Hospital Center of Martinique
Overall Status: Active - Recruiting

Phase

N/A

Condition

Prostate Cancer

Urologic Cancer

Prostate Cancer, Early, Recurrent

Treatment

HOXB13 c.853delT mutation

Clinical Study ID

NCT05231915
19_RIPH2_14
  • Ages > 18
  • Male

Study 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 .

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Adult man over 18 years of age living in Martinique with a prostate cancer whateverthe histological type and the stage, managed in urology consultation (public andprivate 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

Exclusion Criteria:

  • Patient who is not of African descent

  • Refusal to participate.

  • Patients not affiliated to french social security

Study Design

Total Participants: 465
Treatment Group(s): 1
Primary Treatment: HOXB13 c.853delT mutation
Phase:
Study Start date:
April 09, 2021
Estimated Completion Date:
April 09, 2025

Study 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.

Connect with a study center

  • Centre Hospitalier Universitaire de Martinique

    Fort-de-France, 97261
    Martinique

    Active - Recruiting

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