Cohort of Tumors With POLE/D1 Mutation

Launched by FEDERATION FRANCOPHONE DE CANCEROLOGIE DIGESTIVE · Oct 22, 2021

Keywords

ClinConnect Summary

This clinical trial is studying tumors that have specific mutations in two genes known as POLE and POLD1. These mutations can affect how tumors grow and respond to treatments. The main goal is to learn more about the characteristics of these tumors to help improve understanding and treatment options for patients with these specific genetic changes. The study is currently recruiting participants who are 18 years or older and have tumors with particular mutations in the exonuclease domain of either the POLE or POLD1 genes.

To be eligible, individuals must have a diagnosed tumor that shows these mutations, which are classified as harmful by the research team. Participants will be asked to share their medical information and may undergo tests to help researchers gather important data. This study will not accept patients whose tumors do not have these specific mutations or who do not agree to have their information included in the research. Overall, this trial aims to enhance knowledge about these mutations to potentially lead to better treatments for patients in the future.

Gender

ALL

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