Cohort of Tumors With POLE/D1 Mutation
Study Details
Study Description
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
| Condition or Disease | Intervention/Treatment | Phase |
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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 Design
Outcome Measures
Primary Outcome Measures
- 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
- 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
- Overall survival and response to treatments [October 2027]
Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)
Secondary Outcome Measures
- database and block librabry [October 2027]
Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors
Eligibility Criteria
Criteria
Inclusion Criteria:
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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).
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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:
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Tumor without POLE or POLD1 mutation
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Tumor with POLE mutation identified in research studies retrospective research
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Opposition of the patient to the registration of his data in the cohort
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | CHU -hopital Rangeuil | Toulouse | France | 31059 |
Sponsors and Collaborators
- Federation Francophone de Cancerologie Digestive
Investigators
- Principal Investigator: Rosine GUIMBAUD, PhD.MD, Fédération francophone de Cancérologie digestive
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- POLE COHORT