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

University Hospital Center of Martinique

Status: Enrolling

Conditions: Prostate Cancer

Treatments: Genetic: HOXB13 c.853delT mutation

Study type: Interventional

Funder types: Other

Identifiers

NCT05231915

19_RIPH2_14

Details and patient eligibility

About

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 .

Full 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.

Enrollment: 465 estimated patients

Sex: Male

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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465 participants in 1 patient group

HOXB13 c.853delT mutation

Other group

Description:

Mutation is detected using Next Generation Sequencing (NGS) technique

Treatment:

Genetic: HOXB13 c.853delT mutation