Clinical trial NCT04141462: EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
Official title: EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Cancer
Genetic Predisposition
Keywords: genetic mutations
early sporadic or familial cancer
gene panel
exome analysis
high-throughput exome sequencing
Lead sponsor: Centre Georges Francois Leclerc
Sponsor class: OTHER
First posted: 2019-10-28
Enrollment: 613
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.

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

Primary outcomes:
measure: genetic mutations
timeFrame: inclusion
Secondary outcomes:
Other outcomes:
Locations:
city: Besançon
country: France
facility: CHRU Jean Minjoz
city: Dijon
country: France
facility: Centre Georges-François Leclerc
city: Dijon
country: France
facility: CHU de Dijon
city: Reims
country: France
facility: CHU de Reims
city: Reims
country: France
facility: Polyclinique de Courlancy
city: Troyes
country: France
facility: CH de Troyes
Study officials:
References: