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

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ClinicalTrials.gov Identifier: NCT03246841
Recruitment Status : Recruiting
First Posted : August 11, 2017
Last Update Posted : October 11, 2018
Sponsor:
Collaborators:
Institut Curie
Gustave Roussy, Cancer Campus, Grand Paris
Institut National de la Santé Et de la Recherche Médicale, France
Information provided by (Responsible Party):
UNICANCER

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.

Condition or disease Intervention/treatment Phase
Hereditary Breast and Ovarian Cancer Mutation Other: Genetic testing Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 500 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Official Title: Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.
Actual Study Start Date : September 21, 2017
Estimated Primary Completion Date : September 30, 2023
Estimated Study Completion Date : December 31, 2023


Arm Intervention/treatment
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.
Other: 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.




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. The results for the whole panel sequencing will be formated to be used by all laboratories allowing the subsequent centralisation of the data. [ Time Frame: 2 years ]
    This outcome will allow to establish a procedure for centralising homogeneous genomic sequencing data produced by the molecular diagnostics laboratories

  2. 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 ]
    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.



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Ages Eligible for Study:   18 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03246841


Contacts
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Contact: Jerome LEMONNIER, PhD +331 7193 6702 j-lemonnier@unicancer.fr

Locations
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France
Gustave Roussy Recruiting
Paris, France
Contact: Olivier Caron, MD       olivier.caron@gustaveroussy.fr   
Sponsors and Collaborators
UNICANCER
Institut Curie
Gustave Roussy, Cancer Campus, Grand Paris
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Olivier CARON, MD Gustave Roussy, Villejuif, France

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Responsible Party: UNICANCER
ClinicalTrials.gov Identifier: NCT03246841     History of Changes
Other Study ID Numbers: UC-0104/1605 - TUMOSPEC
2016-A00338-43 ( Other Identifier: Id-RCB )
ONCO04 ( Other Identifier: UNICANCER )
First Posted: August 11, 2017    Key Record Dates
Last Update Posted: October 11, 2018
Last Verified: October 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by UNICANCER:
Oncogeneticists
Mutations
Breast Cancer
Ovarian cancer

Additional relevant MeSH terms:
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Ovarian Neoplasms
Carcinoma, Ovarian Epithelial
Hereditary Breast and Ovarian Cancer Syndrome
Endocrine Gland Neoplasms
Neoplasms by Site
Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Genital Neoplasms, Female
Urogenital Neoplasms
Endocrine System Diseases
Gonadal Disorders
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Breast Neoplasms
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
Breast Diseases
Skin Diseases