Cohort of Tumors With POLE/D1 Mutation

Recruiting

• Conditions: POLE Exonuclease Domain Mutation; Tumors; POLD1 Gene Mutation

• Registration Number: NCT05103969
• Lead Sponsor: Federation Francophone de Cancerologie Digestive

Brief Summary

Primary objective of this study is to identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE (Polymerase ɛ)/POLD1 mutation identified by molecular biology platforms for all stages and primary sites combined

Detailed Description

The identification of patients to be included will be done directly from the tumor genotyping platforms.

Indeed, they will be the direct source of the identification of all POLE (Polymerase ɛ) mutations.

The platforms will inform the project coordination unit of new cases of mutated cancers as well as the referent investigator, jointly they will be in charge of data entry.

The diagnostic and follow-up data of each patient will be collected prospectively.

Study Timeline

• Study Start: 2021-10-05
• Study First Submitted: 2021-10-06
• Study First Submitted QC: 2021-10-22
• Study First Posted: 2021-11-02
• Status Verified: 2024-07
• Last Update Submitted: 2024-07-05
• Last Update Posted: 2024-07-08
• Primary Completion: 2025-10-06
• Study Completion: 2025-10-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• Any tumor presenting a variant of the exonuclease domain of POLE (exons 9 to 14) classified as pathogenic by the project working group, including: the 4 hotspots of mutations described (codons 286 (P286R/H/L), 411 (V411L), 459 (S459F), 424 (L424/V/I), (2).
• Any tumor presenting a variant of the exonuclease domain of PolD1 (exons 8-12), classified as pathogenic by the project working group, including : C319Y(10).

Diagnosis made from the date of launch of the cohort and in the previous year

-Age ≥ 18 years

Exclusion Criteria

• Tumor without POLE or POLD1 mutation
• Tumor with POLE mutation identified in research studies retrospective research
• Opposition of the patient to the registration of his data in the cohort

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Molecular characterization of the identified POLE/POLD1 mutations	October 2027	Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations
To identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE/POLD1 mutation identified by molecular biology platforms for all stages and primary sites	October 2027	Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation
Overall survival and response to treatments	October 2027	Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)

Secondary Outcome Measures

Name	Time	Method
database and block librabry	October 2027	Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors

Trial Locations

Locations (1)

CHU -hopital Rangeuil; 🇫🇷 Toulouse, France