Cohort of Tumors With POLE/D1 Mutation

Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation

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

Study Overview

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

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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: ROSINE GUIMBAUD, PhD.MD; Phone Number: +33 (0)5 61 32 21 42; Email: guimbaud.r@chu-toulouse.fr

Study Locations

• France
  • Toulouse, France, 31059
    • Recruiting
    • CHU -hopital Rangeuil
    • Contact: Rosine GUIMBAUD, PhD MD; Phone Number: +33 (0)5 61 32 21 42; Email: guimbaud.r@chu-toulouse.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

- Patient with a histologically proven tumor with a POLE or POLD1 mutation identified by molecular biology analysis, carried out within the framework of clinical practice in the platforms that have set up this research.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation	October 2027
Molecular characterization of the identified POLE/POLD1 mutations	Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations	October 2027
Overall survival and response to treatments	Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)	October 2027

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
database and block librabry	Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors	October 2027

Collaborators and Investigators

• Sponsor: Federation Francophone de Cancerologie Digestive
• Investigators: Principal Investigator: Rosine GUIMBAUD, PhD.MD, Federation Francophone de Cancerologie Digestive

Study record dates

Study Major Dates

• Study Start (Actual): October 5, 2021
• Primary Completion (Estimated): October 6, 2025
• Study Completion (Estimated): October 6, 2025

Study Registration Dates

• First Submitted: October 6, 2021
• First Submitted That Met QC Criteria: October 22, 2021
• First Posted (Actual): November 2, 2021

Study Record Updates

• Last Update Posted (Actual): July 8, 2024
• Last Update Submitted That Met QC Criteria: July 5, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Other Study ID Numbers: POLE COHORT

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No