Cohort of Tumors With POLE/D1 Mutation

Study Overview
=================
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.

Official Title
-----------------
Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation

Conditions
-----------------
Tumors, POLE Exonuclease Domain Mutation, POLD1 Gene Mutation

Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------
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 |