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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
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.
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| 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 |
| 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 |
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Inclusion Criteria:
Diagnosis made from the date of launch of the cohort and in the previous year
-Age ≥ 18 years
Exclusion Criteria:
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- 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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| ROSINE GUIMBAUD, PhD.MD | Contact | +33 (0)5 61 32 21 42 | guimbaud.r@chu-toulouse.fr |
| Name | Affiliation | Role |
|---|---|---|
| Rosine GUIMBAUD, PhD.MD | Fédération francophone de Cancérologie digestive | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU -hopital Rangeuil | Recruiting | Toulouse | 31059 | France |
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| ID | Term |
|---|---|
| D009369 | Neoplasms |
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blocks of tumor removed in the course of care fixed tissue.