Identifying genetic factors in early-onset cancer using exome analysis
EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
This study is trying to find new genetic clues in patients with early-onset cancer who didn't get answers from previous tests to help improve how we understand and diagnose these cancers.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 613 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Centre Georges Francois Leclerc Academic / other |
| Locations | 6 sites (Besançon and 5 other locations) |
| Trial ID | NCT04141462 on ClinicalTrials.gov |
What this trial studies
This study aims to evaluate the effectiveness of high-throughput exome sequencing (SHD-E) in identifying genetic predisposition factors in patients diagnosed with early-onset cancer, either sporadic or familial. It focuses on patients who have previously undergone a gene panel analysis that yielded negative results, suggesting that traditional methods may not capture all relevant genetic alterations. By analyzing blood samples and potentially tumor samples, the study seeks to uncover additional genetic mutations that could contribute to cancer development. The goal is to enhance the understanding of genetic factors involved in early-onset cancers and improve diagnostic strategies.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with cancer before age 40, who have undergone a negative oncogenetic panel and have available family members for genetic analysis.
Not a fit: Patients with known genetic mutations identified in the oncogenetic panel or those diagnosed with cancer after age 40 may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better identification of genetic predispositions in early-onset cancer patients, allowing for more personalized treatment and prevention strategies.
How similar studies have performed: Other studies utilizing high-throughput exome sequencing have shown promise in identifying genetic factors in various cancers, suggesting that this approach may be effective.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Besançon and 5 other locations
- CHRU Jean Minjoz — Besançon, France (Not_yet_recruiting)
- Centre Georges-François Leclerc — Dijon, France (Recruiting)
- CHU de Dijon — Dijon, France (Not_yet_recruiting)
- CHU de Reims — Reims, France (Not_yet_recruiting)
- Polyclinique de Courlancy — Reims, France (Not_yet_recruiting)
- CH de Troyes — Troyes, France (Not_yet_recruiting)
Study contacts
- Study coordinator: Sophie NAMBOT, Dr
- Email: sophie.nambot@chu-dijon.fr
- Phone: 03 80 29 53 13
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.