Informations générales (source: ClinicalTrials.gov)
Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes. (TUMOSPEC)
Interventional
N/A
UNICANCER (Voir sur ClinicalTrials)
septembre 2017
décembre 2025
05 avril 2025
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.
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| CLCC INSTITUT CURIE | 10/04/2025 13:12:19 | Contact (sur clinicalTrials) | |||
| CLCC INSTITUT GUSTAVE ROUSSY | Olivier CARON | 21/05/2024 09:33:26 | Contacter | ||
| CLCC RENE HUGUENIN INSTITUT CURIE | 10/04/2025 13:12:02 | Contact (sur clinicalTrials) | |||
Critères
Tous
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.
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.
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.