Cohort of Tumors With POLE/D1 Mutation

Federation Francophone de Cancerologie Digestive

Status: Enrolling

Conditions: Tumors; POLE Exonuclease Domain Mutation; POLD1 Gene Mutation

Study type: Observational

Funder types: Other

Identifiers

NCT05103969

POLE COHORT

Details and patient eligibility

About

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

Full description

The identification of patients to be included will be done directly from the tumor genotyping platforms.

Indeed, they will be the direct source of the identification of all POLE (Polymerase ɛ) mutations.

The platforms will inform the project coordination unit of new cases of mutated cancers as well as the referent investigator, jointly they will be in charge of data entry.

The diagnostic and follow-up data of each patient will be collected prospectively.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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