Identifying genetic factors in early-onset cancer using exome analysis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Centre Georges-François Leclerc
  Dijon, France Recruiting
• CHRU Jean Minjoz
  Besançon, France Not yet 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.