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

Cancer Clinical Trial

— EX²TRICAN  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04141462
• Other study ID #: EX²TRICAN
• Status: Recruiting
• Phase: N/A
• Start date: October 7, 2019
• Est. completion date: October 7, 2026

Study information

• Verified date: February 2024
• Source: Centre Georges Francois Leclerc
• Contact: Laurence FAIVRE, PH
• Phone: 03 80 29 53 13
• Email: laurence.faivre[@]cgfl.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 613
• Est. completion date: October 7, 2026
• Est. primary completion date: October 7, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Cancer
• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease

Intervention

Genetic:
• blood sample
blood test

Locations

Country	Name	City	State
France	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

Sponsors (1)

Lead Sponsor	Collaborator
Centre Georges Francois Leclerc

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	genetic mutations	SHD-E analysis	inclusion