EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer (EX²TRICAN)
Primary Purpose
Cancer, Genetic Predisposition
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
blood sample
Sponsored by
About this trial
This is an interventional diagnostic trial for Cancer focused on measuring genetic mutations, early sporadic or familial cancer, gene panel, exome analysis, high-throughput exome sequencing
Eligibility Criteria
Inclusion Criteria:
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
Exclusion Criteria:
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
Sites / Locations
- CHRU Jean Minjoz
- Centre Georges-François LeclercRecruiting
- CHU de Dijon
- CHU de Reims
- Polyclinique de Courlancy
- CH de Troyes
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Patients with a a constitutional genetic alteration
Arm Description
one genetic consultation and one blood test
Outcomes
Primary Outcome Measures
genetic mutations
SHD-E analysis
Secondary Outcome Measures
Full Information
NCT ID
NCT04141462
First Posted
October 23, 2019
Last Updated
October 24, 2019
Sponsor
Centre Georges Francois Leclerc
1. Study Identification
Unique Protocol Identification Number
NCT04141462
Brief Title
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
Acronym
EX²TRICAN
Official Title
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
Study Type
Interventional
2. Study Status
Record Verification Date
October 2019
Overall Recruitment Status
Recruiting
Study Start Date
July 2, 2019 (Actual)
Primary Completion Date
October 10, 2019 (Actual)
Study Completion Date
October 10, 2024 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Centre Georges Francois Leclerc
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cancer, Genetic Predisposition
Keywords
genetic mutations, early sporadic or familial cancer, gene panel, exome analysis, high-throughput exome sequencing
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
613 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Patients with a a constitutional genetic alteration
Arm Type
Experimental
Arm Description
one genetic consultation and one blood test
Intervention Type
Genetic
Intervention Name(s)
blood sample
Intervention Description
blood test
Primary Outcome Measure Information:
Title
genetic mutations
Description
SHD-E analysis
Time Frame
inclusion
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
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
Exclusion Criteria:
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Laurence FAIVRE, PH
Phone
03 80 29 53 13
Email
laurence.faivre@cgfl.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Emilie REDERSTORFF
Phone
03 45 34 81 16
Email
erederstorff@cgfl.fr
Facility Information:
Facility Name
CHRU Jean Minjoz
City
Besançon
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Marie-Agnès COLLONGE-RAME
Phone
03 81 21 81 87
Email
macollongerame@chu-besancon.fr
Facility Name
Centre Georges-François Leclerc
City
Dijon
ZIP/Postal Code
21000
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Laurence FAIVRE, PH
Phone
03 80 29 53 13
Email
laurence.faivre@cgfl.fr
First Name & Middle Initial & Last Name & Degree
Emilie REDERSTORFF, PhD
Phone
03 45 34 81 16
Email
erederstorff@cgfl.fr
First Name & Middle Initial & Last Name & Degree
Laurence FAIVRE, PH
First Name & Middle Initial & Last Name & Degree
François GHIRINGHELLI, PU PH
Facility Name
CHU de Dijon
City
Dijon
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Laurence FAIVRE
Phone
03 80 29 53 13
Email
laurence.faivre@cgfl.fr
Facility Name
CHU de Reims
City
Reims
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Monique MOZELLE
Phone
03 26 78 90 03
Email
mmozelle@chu-reims.fr
Facility Name
Polyclinique de Courlancy
City
Reims
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Frederique CARRE-PIGEON
Phone
03 26 78 90 03
Email
Fcarre-pigeon@groupe-courlancy.com
Facility Name
CH de Troyes
City
Troyes
Country
France
Individual Site Status
Not yet recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Monique MOZELLE
Phone
03 25 49 49 14
Email
Monique.mozelle@ch-troyes.fr
12. IPD Sharing Statement
Learn more about this trial
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
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