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
| Condition(s) | Tumors, POLE Exonuclease Domain Mutation, POLD1 Gene Mutation |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | 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 | 18 Years |
| Sex | All |
| Lead sponsor | Federation Francophone de Cancerologie Digestive |
| Locations | Toulouse, France |
| Start date | 2021-10-05 |
| NCT ID | NCT05103969 |
| Official listing | https://clinicaltrials.gov/study/NCT05103969 |