RecruitingNCT05103969

Cohort of Tumors With POLE/D1 Mutation

Multicenter Prospective Cohort of Tumors With Pole/D1 Mutation

Sponsor

Federation Francophone de Cancerologie Digestive

Enrollment

100 participants

Start Date

Oct 5, 2021

Study Type

OBSERVATIONAL

Conditions

POLD1 Gene Mutation Tumors POLE Exonuclease Domain Mutation

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

Min Age: 18 Years

Inclusion Criteria4

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