BRCA Mutation Carriers' Platform a Multicenter Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Registration of clinical datas in the platform.
- Who it may be relevant to
- Registry conditions: BRCA1 Mutation, BRCA2 Mutation. Basic parameters: from 18 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
BRCA Mutation Carriers' Platform, a Multicenter Study
Overview
Subjects who carry mutations in breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2 genes) are at higher risk of developing cancers. Despite the cumulative amount of evidence published in the literature in the last two decades, the management of BRCA mutation carriers is still not completely defined. Since the prevalence of the mutation is estimated to be 1:400 - 1:500 individuals, the total number of BRCA mutation carriers should be around 140.000 - 150.000 in the Italian population. It is estimated that 87% of women with BRCA mutations will experience, in their lifetime, a tumor with a genetic origin. About 20% of the 5200 ovarian cancer cases diagnosed each year in Italy has a genetic origin and could potentially be the object of primary prevention. To date, and to the best of our knowledge, a national prospective data collection on women with BRCA mutations has not been yet established.
Interventions
- Other Registration of clinical datas in the platform
Registration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation
Primary outcome measures
- Collection data about BRCA mutation [Time frame: 1 day]
Secondary outcome measures (7)
- GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS [Time frame: 6 months]
- CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS [Time frame: 6 months]
- RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER [Time frame: 6 months]
- CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION [Time frame: 6 months]
- LIFESTYLE RISK FACTORS [Time frame: 6 months]
- DEFINITION OF PREVENTIVE STRATEGIES [Time frame: 6 months]
- Risk-reducing salpingo-oophorectomy [Time frame: 6 months]
Eligibility criteria
Inclusion criteria
- All women who are 18 years of age or older;
- All women who known to be carriers of a pathogenetic mutation class 4 and 5 of the International Agency of Research on Cancer classification) of the BRCA1 or BRCA2 genes.
Exclusion criteria
- Age < 18 years old;
- No pathogenetic mutation carriers.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 40 centers
- Malzoni Research Hospital — Avellino
- Centro di Riferimento Oncologico IRCCS — Aviano
- Università degli Studi di Bari "Aldo Moro" — Bari
- IRCCS Istituto Tumori "Giovanni Paolo II" — Bari
- ASST Papa Giovanni XXIII — Bergamo
- L'Azienda ospedaliera per l'emergenza "Cannizzaro" — Catania
- Azienda Ospedaliero Santa Croce e Carle — Cuneo
- Presidio Ospedaliero Umberto I - ASP di Enna — Enna
- … and 32 more centers
Identifiers
NCT: NCT07253051 · 4224