BRCA1 Mutation, BRCA2 Mutation
Conditions
Brief summary
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
OTHERRegistration of clinical datas in the platform
Registration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Collection data about BRCA mutation | 1 day | To collect data of each female individual carrying a BRCA1 or BRCA2 mutation |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS | 6 months | GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS FOR IDENTIFY THE AREAS WHERE THE INCIDENCE OF THE MUTATION IS HIGHER THAN EXPECTED |
| CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS | 6 months | CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS FOR THE PREVENTION AND TREATMENT OF GENETIC-RELATED CANCER |
| RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER | 6 months | DEFINITION OF THE RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND THE ONSET OF SPECIFIC TYPES OF CANCER |
| Risk-reducing salpingo-oophorectomy | 6 months | MANAGEMENT OF WOMEN AFTER RRSO (risk-reducing salpingo-oophorectomy) AFTER SURGERY |
| LIFESTYLE RISK FACTORS | 6 months | DEFINITION OF LIFESTYLE RISK FACTORS FOR THE DEVELOPMENT OF TUMORS IN BRCA MUTATION CARRIERS |
| DEFINITION OF PREVENTIVE STRATEGIES | 6 months | HEALTHY SUBJECTS: DEFINITION OF RISK REDUCING OR PREVENTIVE STRATEGIES |
| CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION | 6 months | EVALUATION OF THE ADEQUACY OF THE CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION |
Countries
Italy
Contacts
Primary ContactAnna Fagotti
Outcome results
None listed