Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. (TUMOSPEC)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03246841|
Recruitment Status : Recruiting
First Posted : August 11, 2017
Last Update Posted : October 11, 2018
|Condition or disease||Intervention/treatment||Phase|
|Hereditary Breast and Ovarian Cancer Mutation||Other: Genetic testing||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||500 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.|
|Actual Study Start Date :||September 21, 2017|
|Estimated Primary Completion Date :||September 30, 2023|
|Estimated Study Completion Date :||December 31, 2023|
Analysis of the gene panel
The laboratory will carry out the TUMOSPEC gene panel analysis at the same time as the BRCA1 and BRCA2 analysis and will return a negative (no mutation) or positive (presence of a mutation allowing enrolment of family members) result.
Other: Genetic testing
A panel of 24 genes, chosen in advance by a steering committee, will be tested as the same time as the BRCA1/2 genes, at one of the usual BRCA1/2 analysis laboratories belonging to the same network and participating in the study.
- Penetrance estimation of the mutations identified in the gene panel [ Time Frame: 2 years ]The primary outcome is to obtain unbiased penetrance estimates of the mutations identified in the gene panel (about 20 genes), which will be analysed by the molecular diagnostic laboratories at the same time as the BRCA1 and BRCA2 genes
- The results for the whole panel sequencing will be formated to be used by all laboratories allowing the subsequent centralisation of the data. [ Time Frame: 2 years ]This outcome will allow to establish a procedure for centralising homogeneous genomic sequencing data produced by the molecular diagnostics laboratories
- Relative risk will be determined by the ratio of calculated cancer incidence in mutated and non-mutated families for this gene. [ Time Frame: 2 years ]To determine the deleterious nature of a variant the gene panels will be analysed by the various molecular diagnostics laboratories and we will estimate the relative risk by the ratio of calculated cancer incidence in mutated and non-mutated families for this gene.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03246841
|Contact: Jerome LEMONNIER, PhD||+331 7193 firstname.lastname@example.org|
|Contact: Olivier Caron, MD email@example.com|
|Principal Investigator:||Olivier CARON, MD||Gustave Roussy, Villejuif, France|