Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.

NCT ID: NCT03246841

Last Updated: 2024-12-12

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 7274 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2017-09-21
• Study Completion Date: 2025-12-31

Brief 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. 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

Keywords

Oncogeneticists; Mutations; Breast Cancer; Ovarian cancer

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: PREVENTION
• Blinding Strategy: NONE

Study Groups

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.

Group Type: OTHER

Genetic testing

Intervention Type: OTHER

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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Institut Curie

OTHER

Sponsor Role: collaborator

Gustave Roussy, Cancer Campus, Grand Paris

OTHER

Sponsor Role: collaborator

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role: collaborator

UNICANCER

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Olivier CARON, MD

Role: PRINCIPAL_INVESTIGATOR

Gustave Roussy, Villejuif, France

Andrieu Nadine, PhD

Role: PRINCIPAL_INVESTIGATOR

Institut Curie, Paris, France

Severine Eon Marchais, PhD

Role: PRINCIPAL_INVESTIGATOR

PIGE Institut Curie, Paris, France

Locations

Gustave Roussy

Paris, , France

Institut Curie - PIGE

Paris, , France

Countries

France

References

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.

Reference Type: BACKGROUND

PMID: 34359559 (View on PubMed)

Other Identifiers

2016-A00338-43

Identifier Type: OTHER

Identifier Source: secondary_id

ONCO04

Identifier Type: OTHER

Identifier Source: secondary_id

UC-0104/1605 - TUMOSPEC

Identifier Type: -

Identifier Source: org_study_id