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Cohort of Tumors With POLE/D1 Mutation

RECRUITINGSponsored by Federation Francophone de Cancerologie Digestive
Actively Recruiting
SponsorFederation Francophone de Cancerologie Digestive
Started2021-10-05
Est. completion2025-10-06
Eligibility
Age18 Years+
Healthy vol.Accepted

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

Age: 18 Years+Healthy volunteers accepted
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

Conditions4

CancerPOLD1 Gene MutationPOLE Exonuclease Domain MutationTumors

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