Hereditary Breast and Ovarian CancerTUMOSPECNCT03246841
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
A study testing Genetic testing in people with Hereditary Breast and Ovarian Cancer and Mutation, run by UNICANCER at 2 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Hereditary Breast and Ovarian Cancer, Mutation
- What is being tested?
- Genetic testing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7,274 participants
- Where
- 2 sitesFrance
- Study dates
- 21 Sep 2017to 31 Dec 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
About this study
Official title: Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
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
- Hereditary Breast and Ovarian Cancer, Mutation
- Being tested
- Genetic testing
- Keywords
- Oncogeneticists, Mutations, Breast Cancer, Ovarian cancer
- Medical subject headings
- Hereditary Breast and Ovarian Cancer Syndrome, Breast Neoplasms, Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testingOther
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.
| Study group | Role | What they receive |
|---|---|---|
| Analysis of the gene panel | Other | 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. Receives: Other: Genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Penetrance estimation of the mutations identified in the gene panel
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
Measured: 2 years
Secondary outcomes (2)
The results for the whole panel sequencing will be formatted to be used by all laboratories allowing the subsequent centralisation of the data.
This outcome will allow to establish a procedure for centralising homogeneous genomic sequencing data produced by the molecular diagnostics laboratories
Measured: 2 years
Relative risk will be determined by the ratio of calculated cancer incidence in mutated and non-mutated families for this gene.
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2017
- Study start21 Sep 2017
- Primary completion30 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hereditary Breast and Ovarian CancerStudies of the same condition, open and under way.
- More trials run by UNICANCERThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 7,274 participants (actual)
Sponsor and investigators
- Lead sponsor
- UNICANCER
- Sponsor type
- University, hospital or other
- Collaborators
- Institut Curie, Gustave Roussy, Cancer Campus, Grand Paris, Institut National de la Santé Et de la Recherche Médicale, France
- Responsible party
- Sponsor
- Investigators
- Olivier CARON, MD, Principal investigator, Gustave Roussy, Villejuif, FranceAndrieu Nadine, PhD, Principal investigator, Institut Curie, Paris, FranceSeverine Eon Marchais, PhD, Principal investigator, PIGE Institut Curie, Paris, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03246841
- Sponsor's protocol ID
- UC-0104/1605 - TUMOSPEC
- Other IDs
- 2016-A00338-43, ONCO04
- Acronym
- TUMOSPEC
- Status last verified
- Jul 2026
- First submitted
- 4 Aug 2017
- Last updated
- 31 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Unicancer will share de-identified individual data that underlie the results reported. A decision concerning the sharing of other study documents, including protocol and statistical analysis plan will be examined upon request.
Publications
Lesueur 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.
PubMed 34359559
Study at a glance
From the registry record, last updated by the sponsor on 31 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
- ClinicalTrials.gov ID
- NCT03246841
- Acronym / sponsor ID
- TUMOSPEC / UC-0104/1605 - TUMOSPEC
- Conditions
- Hereditary Breast and Ovarian Cancer, Mutation
- Keywords
- Oncogeneticists, Mutations, Breast Cancer, Ovarian cancer
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 7,274 participants (actual)
- Lead sponsor
- UNICANCERUniversity, hospital or other
- Collaborators
- Institut Curie, Gustave Roussy, Cancer Campus, Grand Paris, Institut National de la Santé Et de la Recherche Médicale, France
- Study start
- 21 Sep 2017 (actual)
- Primary completion
- 30 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 11 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Analysis of the gene panel | Other | Other: Genetic testingThe 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. |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (7 listed)
- Any person with an indication for a BRCA1/BRCA2 gene analysis and who has been offered TUMOSPEC panel screening.
- Age ≥18 years.
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic testingA 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. | Other | Analysis of the gene panel |
Primary outcome
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
2 secondary outcomes
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
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Jul 2026.
- Background: PubMed 34359559Lesueur 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.
- Individual participant dataSharing planned: Yes. Unicancer will share de-identified individual data that underlie the results reported. A decision concerning the sharing of other study documents, including protocol and statistical analysis plan will be examined upon request.
Related trials for Hereditary Breast and Ovarian Cancer
Active, not recruiting
Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian Cancer
No Evidence of Disease, BRCA1 Syndrome
Not yet recruiting
Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants
Ovarian Neoplasms, BRCA 1 Gene Mutation
Recruiting
EHR Intervention to Increase HBOC Genetic Testing
Breast Cancer, Ovarian Cancer
RecruitingPhase 1/2
Phase 1/2 Study of ETX-636 in Participants With Advanced Solid Tumors
Advanced Solid Tumors, Advanced Breast Cancer
RecruitingPhase 1/2
A Study to Evaluate ARV-6723 Alone and With Pembrolizumab in Participants With Advanced Solid Tumors
Advanced Solid Tumor
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Olivier CARON, MD principal investigator
Gustave Roussy, Villejuif, France
Andrieu Nadine, PhD principal investigator
Institut Curie, Paris, France
Severine Eon Marchais, PhD principal investigator
PIGE Institut Curie, Paris, France
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic testing in people with Hereditary Breast and Ovarian Cancer and Mutation, run by UNICANCER at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 31 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Penetrance estimation of the mutations identified in the gene panel (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03246841, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Jul 2026; AzTrials last refreshed its copy on 8 Nov 2026.