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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Registration of clinical datas in the platform | Other | Registration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation |
| Measure | Description | Time Frame |
|---|---|---|
| Collection data about BRCA mutation | To collect data of each female individual carrying a BRCA1 or BRCA2 mutation | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS | GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS FOR IDENTIFY THE AREAS WHERE THE INCIDENCE OF THE MUTATION IS HIGHER THAN EXPECTED | 6 months |
| CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS |
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Inclusion Criteria:
Exclusion Criteria:
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All women who are 18 years of age or older and 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, who signed Informed Consent.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Anna Fagotti | Contact | +390630157004 | anna.fagotti@policlinicogemelli.it |
| Name | Affiliation | Role |
|---|---|---|
| Anna Fagotti | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Malzoni Research Hospital | Not yet recruiting | Avellino | 83100 | Italy |
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CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS FOR THE PREVENTION AND TREATMENT OF GENETIC-RELATED CANCER
| 6 months |
| RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER | DEFINITION OF THE RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND THE ONSET OF SPECIFIC TYPES OF CANCER | 6 months |
| CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION | EVALUATION OF THE ADEQUACY OF THE CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION | 6 months |
| LIFESTYLE RISK FACTORS | DEFINITION OF LIFESTYLE RISK FACTORS FOR THE DEVELOPMENT OF TUMORS IN BRCA MUTATION CARRIERS | 6 months |
| DEFINITION OF PREVENTIVE STRATEGIES | HEALTHY SUBJECTS: DEFINITION OF RISK REDUCING OR PREVENTIVE STRATEGIES | 6 months |
| Risk-reducing salpingo-oophorectomy | MANAGEMENT OF WOMEN AFTER RRSO (risk-reducing salpingo-oophorectomy) AFTER SURGERY | 6 months |
| Centro di Riferimento Oncologico IRCCS | Not yet recruiting | Aviano | 33081 | Italy |
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| Università degli Studi di Bari "Aldo Moro" | Not yet recruiting | Bari | 70121 | Italy |
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| IRCCS Istituto Tumori "Giovanni Paolo II" | Recruiting | Bari | 70124 | Italy |
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| ASST Papa Giovanni XXIII | Not yet recruiting | Bergamo | 24127 | Italy |
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| L'Azienda ospedaliera per l'emergenza "Cannizzaro" | Not yet recruiting | Catania | 95126 | Italy |
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| Azienda Ospedaliero Santa Croce e Carle | Not yet recruiting | Cuneo | 12100 | Italy |
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| Presidio Ospedaliero Umberto I - ASP di Enna | Not yet recruiting | Enna | 94100 | Italy |
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| Azienda Ospedaliero Universitaria Careggi, Oncologia Medica Ginecologica | Not yet recruiting | Florence | 50134 | Italy |
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| IRCCS Ospedale Policlinico San Martino | Not yet recruiting | Genova | 16132 | Italy |
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| Ospedale S. Maria Goretti, Latina | Not yet recruiting | Latina | 04100 | Italy |
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| Ospedale del Tigullio Polo di Lavagna - ASL 4 Chiavarese | Not yet recruiting | Lavagna | 16033 | Italy |
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| Ospedale Vito Fazzi, Lecce | Not yet recruiting | Lecce | 73100 | Italy |
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| Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori" | Not yet recruiting | Meldola | 47014 | Italy |
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| IRCCS Ospedale San Raffaele | Not yet recruiting | Milan | 20132 | Italy |
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| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico | Not yet recruiting | Milan | 20133 | Italy |
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| Humanitas San Pio X - Milano | Not yet recruiting | Milan | 20159 | Italy |
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| Presidio Ospedaliero di Mirano | Not yet recruiting | Mirano | 30035 | Italy |
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| Fondazione IRCCS San Gerardo dei Tintori | Recruiting | Monza | 20900 | Italy |
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| Istituto Nazionale Tumori Fondazione G. Pascale | Recruiting | Naples | 80131 | Italy |
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| Ospedale Mater Olbia | Not yet recruiting | Olbia | 07026 | Italy |
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| Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone | Not yet recruiting | Palermo | 90127 | Italy |
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| Azienda Ospedaliera Universitaria di Parma | Not yet recruiting | Parma | 43126 | Italy |
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| Azienda Ospedaliero-Universitaria di Parma | Not yet recruiting | Parma | 43126 | Italy |
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| Centro Nazionale di Adroterapia Oncologica | Not yet recruiting | Pavia | 27100 | Italy |
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| Fondazione I.R.C.C.S. Policlinico San Matteo | Not yet recruiting | Pavia | 27100 | Italy |
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| Azienda Ospedaliero Universitaria Pisana | Not yet recruiting | Pisa | 56100 | Italy |
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| Istituto Nazionale Tumori Regina Elena | Not yet recruiting | Roma | 00144 | Italy |
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| Istituto Nazionale Tumori Regina Elena | Not yet recruiting | Roma | 00144 | Italy |
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| Policlinico Umberto I Università "La Sapienza" | Not yet recruiting | Roma | 00161 | Italy |
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| Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Ginecologia Oncologica | Recruiting | Rome | 00168 | Italy |
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| Azienda Ospedaliera Universitaria Senese | Not yet recruiting | Siena | 53100 | Italy |
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| Ospedale G. Mazzini di Teramo | Not yet recruiting | Teramo | 64100 | Italy |
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| Azienda sanitaria universitaria Friuli Centrale | Not yet recruiting | Tolmezzo | 33028 | Italy |
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| Azienda Ospedaliero Universitaria Citta della Salute e della Scienza di Torino | Not yet recruiting | Torino | 10126 | Italy |
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| Ospedale Mauriziano Umberto I | Not yet recruiting | Torino | 10128 | Italy |
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| Azienda ULSS 2 MARCA TREVIGIANA | Not yet recruiting | Treviso | 31100 | Italy |
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| IRCCS materno infantile Burlo Garofolo | Not yet recruiting | Trieste | 34137 | Italy |
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| Azienda Ospedaliera Universitaria Integrata | Not yet recruiting | Verona | 37126 | Italy |
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| AULSS 8 Berica | Not yet recruiting | Vicenza | 36100 | Italy |
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