EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer (EX²TRICAN)

5 to 10% of cancers are due to the presence of a constitutional genetic alteration. It can be inherited from parents (family form) or by accident, in the first moments of life after fertilization (sporadic form). In both cases, this genetic alteration is constitutional and transmissible to descendants. It is hereditary. When an hereditary early form is suspected, several well-known genes generally involved in genetic predispositions to cancer are found by a technique called " gene panel ". However, this analysis does not always identify the genetic predisposing factors for cancer. New techniques called "high-throughput exome sequencing (SHD-E)", allow more than the analysis of the the gene panel. These analysis allow to identify alterations in other genes that could contribute to the development of cancer. The objective of the Ex²trican study is to show, from patients with early cancer (sporadic or familial form), that this approach to exome sequencing can be effective to identify new genetic risk of cancer, when the first panel analysis of genes is negative.

Study Overview

• Status: Recruiting
• Conditions: Cancer; Genetic Predisposition
• Intervention / Treatment: Genetic: blood sample

Detailed Description

The main objective of this study is to evaluate the interest of the SHD-E approaches after a negative result of the analysis called " gene panel " tested in routine in order to identify a genetic factor of predisposition to the cancer.

• Study Type: Interventional
• Enrollment (Estimated): 613
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Emilie REDERSTORFF; Phone Number: 03 45 34 81 16; Email: erederstorff@cgfl.fr
• Study Contact Backup: Name: Sophie NAMBOT, Dr; Phone Number: 03 80 29 53 13; Email: sophie.nambot@chu-dijon.fr

Study Locations

• France
  • Besançon, France
    • Not yet recruiting
    • CHRU Jean Minjoz
    • Contact: Marie-Agnès COLLONGE-RAME; Phone Number: 03 81 21 81 87; Email: macollongerame@chu-besancon.fr
  • Dijon, France, 21000
    • Recruiting
    • Centre Georges-Francois Leclerc
    • Contact: Emilie REDERSTORFF, PhD; Phone Number: 03 45 34 81 16; Email: erederstorff@cgfl.fr
    • Sub-Investigator: François GHIRINGHELLI, PU PH
    • Contact: Sophie NAMBOT, Dr; Phone Number: 03 80 29 53 13; Email: sophie.nambot@chu-dijon.fr
    • Sub-Investigator: Laurence FAIVRE, PH
    • Principal Investigator: Sophie NAMBOT, Dr
  • Dijon, France
    • Not yet recruiting
    • CHU de Dijon
    • Contact: Sophie NAMBOT, Dr; Phone Number: 03 80 29 53 13; Email: sophie.nambot@chu-dijon.fr
  • Reims, France
    • Not yet recruiting
    • CHU de reims
    • Contact: Anne DURLACH, Dr; Phone Number: 03 26 78 75 52; Email: adurlach@chu-reims.fr
  • Reims, France
    • Not yet recruiting
    • Polyclinique de Courlancy
    • Contact: Fanny BRAYOTEL, Dr; Phone Number: 03 26 77 22 89; Email: Fbrayotel@groupe-courlancy.com
  • Troyes, France
    • Not yet recruiting
    • CH de Troyes
    • Contact: Charlotte CAILLE BENIGNI, Dr; Phone Number: 03 25 49 49 14; Email: charlotte.caille-benigni@hcs-sante.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

Index case:

1. Major or minor patient
2. Histological or cytological evidence of malignant tumor diagnosis
3. Patient with cancer before age 40 (or before age 30 for breast cancer).
4. Absence of anomaly found on the oncogenetic panel tested in the predisposition concerned
5. Patient affiliated to a social security scheme
6. Signature of Informed Consent EXTRICAN
7. Availability of a tumor sample if needed secondary functional studies
8. Availability of both parents when the trio approach will be necessary in the population 1 (or validation of the indication in CPR in case of non-availability of both parents)
9. Availability of affected relatives in population 2 (or validation of the indication in SPC in case of non-availability of the related person)

Related:

1. Major or minor patient
2. Histological or cytological evidence of the diagnosis of malignant tumor if
3. Patient affiliated to a social security scheme
4. Signing informed consent EXTRICAN

Exclusion Criteria:

Index and related case:

1. Refusal of the patient participation
2. Psychiatric illness and / or condition of the patient compromising the understanding of the information or the realization of the study
3. Patient under guardianship, curatorship or safeguard of justice
4. Pregnant woman

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients with a a constitutional genetic alteration; one genetic consultation and one blood test	Genetic: blood sample; blood test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
genetic mutations	SHD-E analysis	inclusion

Collaborators and Investigators

• Sponsor: Centre Georges Francois Leclerc

Study record dates

Study Major Dates

• Study Start (Actual): October 7, 2019
• Primary Completion (Estimated): April 7, 2028
• Study Completion (Estimated): April 7, 2028

Study Registration Dates

• First Submitted: October 23, 2019
• First Submitted That Met QC Criteria: October 24, 2019
• First Posted (Actual): October 28, 2019

Study Record Updates

• Last Update Posted (Actual): April 3, 2026
• Last Update Submitted That Met QC Criteria: April 2, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: genetic mutations; early sporadic or familial cancer; gene panel; exome analysis; high-throughput exome sequencing
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Pathological Conditions, Signs and Symptoms; Neoplasms; Genetic Predisposition to Disease; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: EX²TRICAN

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No