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

• Sponsor: Centre Georges Francois Leclerc (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04141462
• Collaborator: (none)
• Enrollment: 613
• Locations: 6
• Arm: 1
• Anticipated Duration (Months): 63.3
• Patients Per Site: 102.2
• Patients Per Site Per Month: 1.6

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Cancer; Genetic Predisposition	Genetic: blood sample	N/A

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 Design

• Study Type: Interventional
• Anticipated Enrollment: 613 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Official Title: EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
• Actual Study Start Date: Jul 2, 2019
• Actual Primary Completion Date: Oct 10, 2019
• Anticipated Study Completion Date: Oct 10, 2024

Arms and Interventions

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

Outcome Measures

Primary Outcome Measures

1. genetic mutations [inclusion]

   SHD-E analysis

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CHRU Jean Minjoz	Besançon		France
2	Centre Georges-François Leclerc	Dijon		France	21000
3	CHU de Dijon	Dijon		France
4	CHU de Reims	Reims		France
5	Polyclinique de Courlancy	Reims		France
6	CH de Troyes	Troyes		France

Sponsors and Collaborators

• Centre Georges Francois Leclerc

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Centre Georges Francois Leclerc
• ClinicalTrials.gov Identifier: NCT04141462
• Other Study ID Numbers: EX²TRICAN
• First Posted: Oct 28, 2019
• Last Update Posted: Oct 28, 2019
• Last Verified: Oct 1, 2019

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by Centre Georges Francois Leclerc: genetic mutations; early sporadic or familial cancer; gene panel; exome analysis; high-throughput exome sequencing
• Additional relevant MeSH terms: Disease Susceptibility; Genetic Predisposition to Disease

Study Results

No Results Posted as of Oct 28, 2019