Cancer, Genetic Predisposition
Conditions
Keywords
genetic mutations, early sporadic or familial cancer, gene panel, exome analysis, high-throughput exome sequencing
Brief summary
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
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.
Interventions
GENETICblood sample
blood test
Sponsors
Centre Georges Francois Leclerc
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| genetic mutations | inclusion | SHD-E analysis |
Countries
France
Contacts
CONTACTSophie NAMBOT, Dr
CONTACTEmilie REDERSTORFF
Outcome results
None listed