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

Primary Purpose

Hereditary Breast and Ovarian Cancer, Mutation

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Genetic testing
Sponsored by
UNICANCER
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional prevention trial for Hereditary Breast and Ovarian Cancer focused on measuring Oncogeneticists, Mutations, Breast Cancer, Ovarian cancer

Eligibility Criteria

18 Years - 75 Years (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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.

Sites / Locations

  • Gustave Roussy
  • Institut Curie - PIGERecruiting

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Analysis of the gene panel

Arm 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.

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

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
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.

Full Information

First Posted
August 4, 2017
Last Updated
May 10, 2023
Sponsor
UNICANCER
Collaborators
Institut Curie, Gustave Roussy, Cancer Campus, Grand Paris, Institut National de la Santé Et de la Recherche Médicale, France
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1. Study Identification

Unique Protocol Identification Number
NCT03246841
Brief Title
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
Acronym
TUMOSPEC
Official Title
Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
Study Type
Interventional

2. Study Status

Record Verification Date
May 2023
Overall Recruitment Status
Recruiting
Study Start Date
September 21, 2017 (Actual)
Primary Completion Date
September 30, 2024 (Anticipated)
Study Completion Date
December 31, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
UNICANCER
Collaborators
Institut Curie, Gustave Roussy, Cancer Campus, Grand Paris, Institut National de la Santé Et de la Recherche Médicale, France

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hereditary Breast and Ovarian Cancer, Mutation
Keywords
Oncogeneticists, Mutations, Breast Cancer, Ovarian cancer

7. Study Design

Primary Purpose
Prevention
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
500 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Analysis of the gene panel
Arm Type
Other
Arm 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.
Intervention Type
Other
Intervention Name(s)
Genetic testing
Intervention Description
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.
Primary Outcome Measure Information:
Title
Penetrance estimation of the mutations identified in the gene panel
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
Time Frame
2 years
Secondary Outcome Measure Information:
Title
The results for the whole panel sequencing will be formatted to be used by all laboratories allowing the subsequent centralisation of the data.
Description
This outcome will allow to establish a procedure for centralising homogeneous genomic sequencing data produced by the molecular diagnostics laboratories
Time Frame
2 years
Title
Relative risk will be determined by the ratio of calculated cancer incidence in mutated and non-mutated families for this gene.
Description
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.
Time Frame
2 years

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
75 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Jerome LEMONNIER, PhD
Phone
+331 7193 6702
Email
j-lemonnier@unicancer.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Olivier CARON, MD
Organizational Affiliation
Gustave Roussy, Villejuif, France
Official's Role
Principal Investigator
First Name & Middle Initial & Last Name & Degree
Andrieu Nadine, PhD
Organizational Affiliation
Institut Curie, Paris, France
Official's Role
Principal Investigator
First Name & Middle Initial & Last Name & Degree
Severine Eon Marchais, PhD
Organizational Affiliation
PIGE Institut Curie, Paris, France
Official's Role
Principal Investigator
Facility Information:
Facility Name
Gustave Roussy
City
Paris
Country
France
Individual Site Status
Active, not recruiting
Facility Name
Institut Curie - PIGE
City
Paris
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Severine Eon Marchais
Email
Severine.Eon-Marchais@curie.fr

12. IPD Sharing Statement

Plan to Share IPD
Yes
IPD Sharing Plan Description
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.
IPD Sharing Time Frame
Unicancer will consider access to study data upon written detailed request sent to Unicancer, from 6 months until 5 years after publication of summary data.
IPD Sharing Access Criteria
The data shared will be limit to that required for independent mandated verification of the published results, the applicant will need authorization from Unicancer for personal access, and data will only be transferred after signing of a data access agreement.

Learn more about this trial

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

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