Cohort of tumors with specific genetic mutations
Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation
Federation Francophone de Cancerologie Digestive · NCT05103969
This study is looking at tumors with specific genetic changes in the POLE and POLD1 genes to better understand their characteristics and how they affect patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Federation Francophone de Cancerologie Digestive (other) |
| Locations | 1 site (Toulouse) |
| Trial ID | NCT05103969 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify and describe the clinical, biological, and molecular characteristics of tumors with somatic mutations in the POLE and POLD1 genes. Patients will be identified through tumor genotyping platforms, which will provide data on new cases of mutated cancers. The study will collect diagnostic and follow-up data prospectively to better understand these specific tumor types. The focus is on tumors with pathogenic variants in the exonuclease domain of POLE and POLD1.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with tumors exhibiting pathogenic mutations in the POLE or POLD1 genes.
Not a fit: Patients with tumors that do not have POLE or POLD1 mutations will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of specific tumor mutations, leading to improved diagnosis and treatment strategies for affected patients.
How similar studies have performed: While this approach is focused on specific mutations, similar studies have shown promise in understanding the implications of genetic mutations in cancer.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Toulouse
- CHU -hopital Rangeuil — Toulouse, France (RECRUITING)
Study contacts
- Principal investigator: Rosine GUIMBAUD, PhD.MD — Fédération francophone de Cancérologie digestive
- Study coordinator: ROSINE GUIMBAUD, PhD.MD
- Email: guimbaud.r@chu-toulouse.fr
- Phone: +33 (0)5 61 32 21 42
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Tumors, POLE Exonuclease Domain Mutation, POLD1 Gene Mutation