NCT05231915

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 465 (actual)
• Sponsor: University Hospital Center of Martinique · Academic / Other
• Sex: Male
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Interventions

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

Timeline

• Start date: 2021-04-09
• Primary completion: 2024-11-27
• Completion: 2025-03-09
• First posted: 2022-02-09
• Last updated: 2026-03-31

Locations

1 site across 1 country: Martinique