Clinical trial · Interventional
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
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Hereditary Breast and Ovarian Cancer | — | UNRESOLVED | — |
| Mutation | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Genetic testing | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- OTHER
- label
- Analysis of the gene panel
- description
- 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.
- interventionNames
- Other: Genetic testing
Primary outcomes (1)
- measure
- Penetrance estimation of the mutations identified in the gene panel
- timeFrame
- 2 years
- description
- 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
Secondary outcomes (2)
- measure
- The results for the whole panel sequencing will be formatted to be used by all laboratories allowing the subsequent centralisation of the data.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 75 Years
Show eligibility criteria text
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.
References
Publications (1)
- BACKGROUNDLesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon MG, Golmard L, Rouleau E, Garrec C, Martinez M, Toulas C, Nguyen TD, Brayotel F, Crivelli L, Maugard CM, Bubien V, Sevenet N, Gesta P, Chieze-Valero S, Nambot S, Goussot V, Mari V, Popovici C, Prieur F, Morin-Meschin ME, Tinat J, Lortholary A, Dreyfus H, Bidart M, Collonge-Rame MA, Mozelle-Nivoix M, Gladieff L, Giraud S, Boutry-Kryza N, Chiesa J, Denizeau P, Bignon YJ, Uhrhammer N, Cohen-Haguenauer O, Vilquin P, Mailliez A, Coupier I, Rey JM, Lacaze E, Bera O, Colas C, Coulet F, Delnatte C, Houdayer C, Lasset C, Lemonnier J, Longy M, Nogues C, Stoppa-Lyonnet D, Vaur D, Andrieu N, Caron O. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing. Cancers (Basel). 2021 Jul 21;13(15):3659. doi: 10.3390/cancers13153659. PMID 34359559