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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with a a constitutional genetic alteration | Experimental | one genetic consultation and one blood test |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| blood sample | Genetic | blood test |
|
| Measure | Description | Time Frame |
|---|---|---|
| genetic mutations | SHD-E analysis | inclusion |
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Inclusion Criteria:
Index case:
Related:
Exclusion Criteria:
Index and related case:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| 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 |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHRU Jean Minjoz | Not yet recruiting | Besançon | France |
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| ID | Term |
|---|---|
| D009369 | Neoplasms |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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| Centre Georges-François Leclerc | Recruiting | Dijon | 21000 | France |
|
| CHU de Dijon | Not yet recruiting | Dijon | France |
|
| CHU de Reims | Not yet recruiting | Reims | France |
|
| Polyclinique de Courlancy | Not yet recruiting | Reims | France |
|
| CH de Troyes | Not yet recruiting | Troyes | France |
|
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |