Clinical trial · Interventional
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
| Genetic Predisposition | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| blood sample | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- Patients with a a constitutional genetic alteration
- description
- one genetic consultation and one blood test
- interventionNames
- Genetic: blood sample
Primary outcomes (1)
- measure
- genetic mutations
- timeFrame
- inclusion
- description
- SHD-E analysis
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available