- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03246841
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes. (TUMOSPEC)
Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Jerome LEMONNIER, PhD
- Phone Number: +331 7193 6702
- Email: j-lemonnier@unicancer.fr
Study Locations
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Paris, France
- Active, not recruiting
- Gustave Roussy
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Paris, France
- Recruiting
- Institut Curie - PIGE
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Contact:
- Severine Eon Marchais
- Email: Severine.Eon-Marchais@curie.fr
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
Inclusion criteria:
Index case eligibility:
Any person with an indication for a BRCA1/BRCA2 gene analysis and who has been offered TUMOSPEC panel screening.
Age ≥18 years.
Family member eligibility:
Family members will be eligible if the mutation identified in the Index Case is considered deleterious.
Any family member to the first and second decree or a cousin of the Index Case. Family members from both sides of the family will be invited to take part.
Age ≥18 years.
Exclusion Criteria:
People deprived of their civil liberties or who are under judicial protection or guardianship.
Patients unable to answer the questionnaire for social or psychological reasons.
Children of the index cases, of any age.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Prevention
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Other: 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.
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Penetrance estimation of the mutations identified in the gene panel
Time Frame: 2 years
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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
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2 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
The results for the whole panel sequencing will be formatted to be used by all laboratories allowing the subsequent centralisation of the data.
Time Frame: 2 years
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This outcome will allow to establish a procedure for centralising homogeneous genomic sequencing data produced by the molecular diagnostics laboratories
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2 years
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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
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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.
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2 years
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Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Olivier CARON, MD, Gustave Roussy, Villejuif, France
- Principal Investigator: Andrieu Nadine, PhD, Institut Curie, Paris, France
- Principal Investigator: Severine Eon Marchais, PhD, PIGE Institut Curie, Paris, France
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Skin Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Urogenital Neoplasms
- Neoplasms by Site
- Carcinoma
- Neoplasms, Glandular and Epithelial
- Genital Neoplasms, Female
- Endocrine System Diseases
- Ovarian Diseases
- Adnexal Diseases
- Gonadal Disorders
- Endocrine Gland Neoplasms
- Breast Diseases
- Genetic Diseases, Inborn
- Neoplastic Syndromes, Hereditary
- Breast Neoplasms
- Ovarian Neoplasms
- Carcinoma, Ovarian Epithelial
- Hereditary Breast and Ovarian Cancer Syndrome
Other Study ID Numbers
- UC-0104/1605 - TUMOSPEC
- 2016-A00338-43 (Other Identifier: Id-RCB)
- ONCO04 (Other Identifier: UNICANCER)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Time Frame
IPD Sharing Access Criteria
IPD Sharing Supporting Information Type
- STUDY_PROTOCOL
- SAP
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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