NCT03246841Active, not recruiting
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
Source: ClinicalTrials.gov · Last updated 31 Jul 2026
Brief summary (registry, in English)
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes. Index cases will be enrolled consecutively from patients attending an appointment at one of the Unicancer centres, with no other inclusion criteria, and offered a BRCA1/2 analysis as part of their care plan. A panel of 24 TUMOSPEC 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. If a mutation is found, the index cases will be asked to invite their first and second degree family members and their cousins to take part in the study, regardless of whether they have cancer. Saliva samples will be then taken and used for a targeted analysis of the familial abnormality. Each participant will also complete an epidemiological questionnaire in order to gather information about his/her medical history and any exposure to various risk factors. All medical and genotype data will be centralised at the Genetic Epidemiology Research Platform (PIGE, INSERM). The cumulative mutation frequency for all genes is estimated at 10%. Penetrance will be analysed using methods designed to minimise selection bias. The expression spectrum of the mutations will also be described. For genes where the number of mutated families is too low, the data may be contributed to international consortia. The main project will be preceded by a two-year feasibility study, using the same inclusion criteria and logistic circuits. It is this pilot study to which the current funding application relates.
- Status (registry)
- Active, not recruiting
- Study type
- Interventional
- Enrollment
- 7274 (actual)
- First submitted
- 4 Aug 2017
- Start date
- 21 Sept 2017
- Primary completion date
- 30 Dec 2026
- Lead sponsor
- UNICANCER
- Diseases
- Ovarian cancer
- NCT number
- NCT03246841
What you commit to
- Study type: Interventional
- Participants enrolled: 7274
- From 21 Sept 2017 to the primary completion date, 30 Dec 2026
- 2 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- Children of the index cases, of any age.
Other
- 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.
Who the study is looking for
- 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.
Age in the registry: 18 years to 75 years · Sex: All · Accepts healthy volunteers
Sites (2)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Gustave Roussy Coordinator of this site? Confirm its status | Paris | France | Unknown status |
| Institut Curie - PIGE Coordinator of this site? Confirm its status | Paris | France | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.