Cohort of Tumors With POLE/D1 Mutation

Federation Francophone de Cancerologie Digestive100 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Tumors POLE Exonuclease Domain Mutation POLD1 Gene Mutation

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

CHU -hopital Rangeuil

Toulouse, France

RECRUITING

Outcomes

Primary Outcomes

To identify and describe the clinico-biological and molecular characteristics of tumors with somatic POLE/POLD1 mutation identified by molecular biology platforms for all stages and primary sites

Collection and description of clinical and histo-pathological data of tumors with POLE/POLD1 mutation

Time frame: October 2027

Molecular characterization of the identified POLE/POLD1 mutations

Molecular characterization of the identified POLE/POLD1 mutations and of the mutational profile associated with these mutations

Time frame: October 2027

Overall survival and response to treatments

Analysis of overall survival and response to treatments (chemotherapies, immunotherapies...)

Time frame: October 2027

Secondary Outcomes

database and block librabry

Establishment of a database of somatic POLE variants Establishment of a block library of POLE mutated tumors

Time frame: October 2027

Central Contacts

ROSINE GUIMBAUD, PhD.MD

CONTACT

+33 (0)5 61 32 21 42 guimbaud.r@chu-toulouse.fr

Data from ClinicalTrials.gov

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