Actively Recruiting

Phase Not Applicable
Age: 18Years +
All Genders
ID04141462

EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer

Led by Centre Georges Francois Leclerc · Updated on 2026-04-03

613

Participants Needed

6

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying genetic factors linked to early-onset cancer, focusing on patients with either inherited or spontaneous genetic alterations that may increase cancer risk. This study aims to evaluate a new genetic testing method called high-throughput exome sequencing (SHD-E) after standard gene panel tests fail to identify a genetic cause. The goal is to see if SHD-E can find additional genetic changes that contribute to cancer predisposition in patients diagnosed at a young age. Participants will undergo one genetic consultation and provide a blood sample for analysis. This approach is being assessed for patients diagnosed with cancer before age 40 (or before age 30 for breast cancer) who had negative results from routine gene panel tests. The study may also include tumor samples and, when necessary, testing of parents or affected relatives to support genetic analysis. During the study, participants will have their genetic mutations evaluated to identify new cancer risk factors. The study involves reviewing the genetic data collected from blood tests and possibly tumor samples. Participants must consent to join and be affiliated with a social security scheme. The primary outcome measured is the identification of genetic mutations that may explain cancer predisposition in these early-onset cases.

CONDITIONS

Brief Title

EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patient is a minor or adult
  • Has histological or cytological evidence of a malignant tumor diagnosis
  • Cancer diagnosis before age 40, or before age 30 for breast cancer
  • No anomaly found on routine oncogenetic gene panel test related to cancer predisposition
  • Affiliated with a social security scheme
  • Signed informed consent for the EXTRICAN study
  • Availability of a tumor sample if secondary studies are needed
  • Availability of both parents if trio genetic analysis is needed, or approval if parents are unavailable
  • Availability of affected relatives if needed, or approval if relatives are unavailable
Not Eligible

You will not qualify if you...

  • Patient refuses to participate
  • Psychiatric illness or condition affecting understanding or ability to participate
  • Under guardianship, curatorship, or judicial protection
  • Pregnant woman

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Up to several weeks depending on analysis time

Participants undergo a genetic consultation and a blood test to identify genetic predisposition factors for early-onset cancer after a negative routine gene panel test.

1 visit (in-person) for consultation and blood sample collection

Long-term Monitoring

Duration - Up to several years until study completion

Participants are observed for outcomes related to the genetic analysis over time.

Follow-up visits may occur depending on individual needs

Trial Site Locations

Total: 6 locations

1

CHRU Jean Minjoz

Besançon, France

Not Yet Recruiting

2

Centre Georges-François Leclerc

Dijon, France, 21000

Actively Recruiting

3

CHU de Dijon

Dijon, France

Not Yet Recruiting

4

CHU de Reims

Reims, France

Not Yet Recruiting

5

Polyclinique de Courlancy

Reims, France

Not Yet Recruiting

6

CH de Troyes

Troyes, France

Not Yet Recruiting

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Research Team

S

Sophie NAMBOT, Dr

E

Emilie REDERSTORFF

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

DIAGNOSTIC

Number of Arms

1

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