RecruitingNCT05630105

Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene

National Cohort of Patients With Cowden's Disease and With a Constitutional Alteration of the PTEN Gene for the Prospective Assessment of the Risk of Cancer.


Sponsor

Institut Bergonié

Enrollment

430 participants

Start Date

Jun 12, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.


Eligibility

Inclusion Criteria6

  • Male or female.
  • Adult or child without age limit.
  • Carrier of a constitutional or mosaic alteration of the PTEN gene established and/or confirmed by the Institut Bergonié's genetics laboratory, following a request for molecular diagnosis made between 1997 and 2027.
  • Participant informed of his genetic diagnosis.
  • Participant informed and not having expressed non-opposition to participate in the research.
  • Participant affiliated to a French social security system in accordance with French law on research involving the human person.

Exclusion Criteria3

  • Participant under guardianship or curatorship. Exception: a participant with autism may be included in the study.
  • Persons deprived of their liberty by a judicial or administrative decision.
  • Persons under psychiatric care, persons admitted to a health or social establishment for purposes other than research; Exception: a participant with autism may be included in the study.

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Locations(1)

Institut Bergonié, Comprehensive Cancer Center

Bordeaux, France

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NCT05630105


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