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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Cancer, Genetic Predisposition

Intervention / Treatment
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* Genetic: blood sample


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Index case: Major or minor patient Histological or cytological evidence of malignant tumor diagnosis Patient with cancer before age 40 (or before age 30 for breast cancer). Absence of anomaly found on the oncogenetic panel tested in the predisposition concerned Patient affiliated to a social security scheme Signature of Informed Consent EXTRICAN Availability of a tumor sample if needed secondary functional studies 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) Availability of affected relatives in population 2 (or validation of the indication in SPC in case of non-availability of the related person) Related: Major or minor patient Histological or cytological evidence of the diagnosis of malignant tumor if Patient affiliated to a social security scheme Signing informed consent EXTRICAN Exclusion Criteria: Index and related case: Refusal of the patient participation Psychiatric illness and / or condition of the patient compromising the understanding of the information or the realization of the study Patient under guardianship, curatorship or safeguard of justice Pregnant woman

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Patients with a a constitutional genetic alteration<br>one genetic consultation and one blood test | Genetic: blood sample<br>* blood test<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| genetic mutations | SHD-E analysis | inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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genetic mutations, early sporadic or familial cancer, gene panel, exome analysis, high-throughput exome sequencing