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

NCT04141462 | Recruiting

• 1 other identifier: EX²TRICAN
• Study Type: interventional
• Target: 613
• Locations: 1 country
• Sites: 6

Brief Summary

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.

Conditions

Cancer; Genetic Predisposition

Keywords

genetic mutations; early sporadic or familial cancer; gene panel; exome analysis; high-throughput exome sequencing

Outcome Measures

Primary Outcomes (1)

• genetic mutations

  SHD-E analysis

  inclusion

Study Arms (1)

Patients with a a constitutional genetic alteration

EXPERIMENTAL

one genetic consultation and one blood test

Genetic: blood sample

Interventions

blood sample GENETIC

blood test

Patients with a a constitutional genetic alteration

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Index case:
• Major or minor patient
• Histological or cytological evidence of malignant tumor diagnosis
• Patient with cancer before age 40 (or before age 30 for breast cancer).
• Absence of anomaly found on the oncogenetic panel tested in the predisposition concerned
• Patient affiliated to a social security scheme
• Signature of Informed Consent EXTRICAN
• Availability of a tumor sample if needed secondary functional studies
• 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)
• Availability of affected relatives in population 2 (or validation of the indication in SPC in case of non-availability of the related person)
• Related:
• Major or minor patient
• Histological or cytological evidence of the diagnosis of malignant tumor if
• Patient affiliated to a social security scheme
• Signing informed consent EXTRICAN

You may not qualify if:

• Index and related case:
• Refusal of the patient participation
• Psychiatric illness and / or condition of the patient compromising the understanding of the information or the realization of the study
• Patient under guardianship, curatorship or safeguard of justice
• Pregnant woman

Sponsors & Collaborators

• Centre Georges Francois Leclerc: lead

Study Sites (6)

CHRU Jean Minjoz

Besançon, France

NOT YET RECRUITING

Centre Georges-François Leclerc

Dijon, 21000, France

RECRUITING

CHU de Dijon

Dijon, France

NOT YET RECRUITING

CHU de Reims

Reims, France

NOT YET RECRUITING

Polyclinique de Courlancy

Reims, France

NOT YET RECRUITING

CH de Troyes

Troyes, France

NOT YET RECRUITING

MeSH Terms

Conditions

Neoplasms; Genetic Predisposition to Disease

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Sophie NAMBOT, Dr

CONTACT

03 80 29 53 13; sophie.nambot@chu-dijon.fr

Emilie REDERSTORFF

CONTACT

03 45 34 81 16; erederstorff@cgfl.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 23, 2019
• First Posted: October 28, 2019
• Study Start: October 7, 2019
• Primary Completion: April 7, 2026
• Study Completion (Estimated): April 7, 2028
• Last Updated: October 29, 2024

Record last verified: 2024-10

Locations

FR (6)