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Recruiting NCT05103969

Cohort of Tumors With POLE/D1 Mutation

Trial Parameters

Condition Tumors
Sponsor Federation Francophone de Cancerologie Digestive
Study Type OBSERVATIONAL
Phase N/A
Enrollment 100
Sex ALL
Min Age 18 Years
Max Age N/A
Start Date 2021-10-05
Completion 2025-10-06

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

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

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