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

Not Applicable

Recruiting

• Conditions: Cancer; Genetic Predisposition
• Interventions: Genetic: blood sample

• Registration Number: NCT04141462
• Lead Sponsor: Centre Georges Francois Leclerc

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.

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 Timeline

• Study Start: 2019-10-07
• Study First Submitted: 2019-10-23
• Study First Submitted QC: 2019-10-24
• Study First Posted: 2019-10-28
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-28
• Last Update Posted: 2024-10-29
• Primary Completion: 2026-04-07
• Study Completion: 2028-04-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 613

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patients with a a constitutional genetic alteration	blood sample	one genetic consultation and one blood test

Primary Outcome Measures

Name	Time	Method
genetic mutations	inclusion	SHD-E analysis

Trial Locations

Locations (6)

CHRU Jean Minjoz; 🇫🇷 Besançon, France

Centre Georges-François Leclerc; 🇫🇷 Dijon, France

CHU de Dijon; 🇫🇷 Dijon, France

CHU de Reims; 🇫🇷 Reims, France

Polyclinique de Courlancy; 🇫🇷 Reims, France

CH de Troyes; 🇫🇷 Troyes, France