Investigation of Tumour Spectrum of Germline Mutations in Breast & Ovarian

Status Recruiting

Clinical 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. 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Carcinoma, Ovarian Epithelial
Hereditary Breast and Ovarian Cancer
Hereditary Breast and Ovarian Cancer Syndrome
Mutation
Ovarian Neoplasms

Clinical Trial Details

NCT number	NCT03246841
Study type	Interventional
Source	UNICANCER
Contact	Jerome LEMONNIER, PhD
Phone	+331 7193 6702
Email	j-lemonnier@unicancer.fr
Status	Recruiting
Phase	N/A
Start date	September 21, 2017
Completion date	December 31, 2024

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT03421327` - Genetic Risk: Whether, When, and How to Tell Adolescents
Terminated	`NCT04668521` - Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
Completed	`NCT03075540` - Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer	N/A
Enrolling by invitation	`NCT05721326` - Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition	N/A
Recruiting	`NCT04407611` - Scalable Communication Modalities for Returning Genetic Research Results	N/A
Recruiting	`NCT02302742` - Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
Recruiting	`NCT02516540` - Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers	N/A
Recruiting	`NCT05409222` - Study of Quality of Life Post Salpingo-oophorectomy in BRCA1/2 & PALB2 Mutation Carriers (BRCA-HRT)
Completed	`NCT02324062` - Cancer Genetics Hereditary Cancer Panel Testing	N/A
Enrolling by invitation	`NCT05130606` - CONTIGO - Informing Latinas About HBOC Risk	N/A
Completed	`NCT03511690` - Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment	N/A
Completed	`NCT02087592` - Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers	N/A
Active, not recruiting	`NCT01608074` - Radical Fimbriectomy for Young BRCA Mutation Carriers	N/A
Not yet recruiting	`NCT03979612` - Evaluation of the Adhesion to the GENEPY Network
Terminated	`NCT04508764` - Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome	N/A
Recruiting	`NCT03050268` - Familial Investigations of Childhood Cancer Predisposition
Completed	`NCT02786147` - Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
Recruiting	`NCT03124212` - Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms