EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer

Launched by CENTRE GEORGES FRANCOIS LECLERC · Oct 24, 2019

Keywords

ClinConnect Summary

The EXOME Analysis study is looking at how a new genetic testing method can help identify the reasons behind early-onset cancer in patients. While about 5 to 10% of cancers can be linked to inherited genetic changes, sometimes standard tests that check for common cancer-related genes do not provide answers. This study aims to use a more advanced technique called "high-throughput exome sequencing" to find genetic risks that might contribute to cancer, especially in patients who were diagnosed before the age of 40.

To participate in this study, you need to be a patient with a confirmed cancer diagnosis at a young age (under 40 years old, or under 30 for breast cancer) and have already undergone testing for common genetic changes without finding any issues. Both parents should ideally be available for testing as well. Participants will provide a tumor sample, and after signing consent, they can expect to help researchers learn more about genetic factors in cancer, which could lead to better understanding and treatment options for future patients.

Gender

ALL

Eligibility 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