BRCA Mutation Carriers' Platform a Multicenter Study

NCT07253051 | Recruiting

• 1 other identifier: 4224
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 40

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.

Conditions

BRCA1 Mutation; BRCA2 Mutation

Outcome Measures

Primary Outcomes (1)

• Collection data about BRCA mutation

  To collect data of each female individual carrying a BRCA1 or BRCA2 mutation

  1 day

Secondary Outcomes (7)

• GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS

  6 months

• CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS

  6 months

• RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER

  6 months

• CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION

  6 months

• LIFESTYLE RISK FACTORS

  6 months

Interventions

Registration of clinical datas in the platform OTHER

Registration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

You may not qualify if:

• Age \< 18 years old;
• No pathogenetic mutation carriers.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (40)

Malzoni Research Hospital

Avellino, 83100, Italy

NOT YET RECRUITING

Centro di Riferimento Oncologico IRCCS

Aviano, 33081, Italy

NOT YET RECRUITING

Università degli Studi di Bari "Aldo Moro"

Bari, 70121, Italy

NOT YET RECRUITING

IRCCS Istituto Tumori "Giovanni Paolo II"

Bari, 70124, Italy

RECRUITING

ASST Papa Giovanni XXIII

Bergamo, 24127, Italy

NOT YET RECRUITING

L'Azienda ospedaliera per l'emergenza "Cannizzaro"

Catania, 95126, Italy

NOT YET RECRUITING

Azienda Ospedaliero Santa Croce e Carle

Cuneo, 12100, Italy

NOT YET RECRUITING

Presidio Ospedaliero Umberto I - ASP di Enna

Enna, 94100, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Careggi, Oncologia Medica Ginecologica

Florence, 50134, Italy

NOT YET RECRUITING

IRCCS Ospedale Policlinico San Martino

Genova, 16132, Italy

NOT YET RECRUITING

Ospedale S. Maria Goretti, Latina

Latina, 04100, Italy

NOT YET RECRUITING

Ospedale del Tigullio Polo di Lavagna - ASL 4 Chiavarese

Lavagna, 16033, Italy

NOT YET RECRUITING

Ospedale Vito Fazzi, Lecce

Lecce, 73100, Italy

NOT YET RECRUITING

Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori"

Meldola, 47014, Italy

NOT YET RECRUITING

IRCCS Ospedale San Raffaele

Milan, 20132, Italy

NOT YET RECRUITING

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, 20133, Italy

NOT YET RECRUITING

Humanitas San Pio X - Milano

Milan, 20159, Italy

NOT YET RECRUITING

Presidio Ospedaliero di Mirano

Mirano, 30035, Italy

NOT YET RECRUITING

Fondazione IRCCS San Gerardo dei Tintori

Monza, 20900, Italy

RECRUITING

Istituto Nazionale Tumori Fondazione G. Pascale

Napoli, 80131, Italy

RECRUITING

Ospedale Mater Olbia

Olbia, 07026, Italy

NOT YET RECRUITING

Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone

Palermo, 90127, Italy

NOT YET RECRUITING

Azienda Ospedaliera Universitaria di Parma

Parma, 43126, Italy

NOT YET RECRUITING

Azienda Ospedaliero-Universitaria di Parma

Parma, 43126, Italy

NOT YET RECRUITING

Centro Nazionale di Adroterapia Oncologica

Pavia, 27100, Italy

NOT YET RECRUITING

Fondazione I.R.C.C.S. Policlinico San Matteo

Pavia, 27100, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Pisana

Pisa, 56100, Italy

NOT YET RECRUITING

Istituto Nazionale Tumori Regina Elena

Roma, 00144, Italy

NOT YET RECRUITING

Istituto Nazionale Tumori Regina Elena

Roma, 00144, Italy

NOT YET RECRUITING

Policlinico Umberto I Università "La Sapienza"

Roma, 00161, Italy

NOT YET RECRUITING

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Ginecologia Oncologica

Rome, 00168, Italy

RECRUITING

Azienda Ospedaliera Universitaria Senese

Siena, 53100, Italy

NOT YET RECRUITING

Ospedale G. Mazzini di Teramo

Teramo, 64100, Italy

NOT YET RECRUITING

Azienda sanitaria universitaria Friuli Centrale

Tolmezzo, 33028, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Citta della Salute e della Scienza di Torino

Torino, 10126, Italy

NOT YET RECRUITING

Ospedale Mauriziano Umberto I

Torino, 10128, Italy

NOT YET RECRUITING

Azienda ULSS 2 MARCA TREVIGIANA

Treviso, 31100, Italy

NOT YET RECRUITING

IRCCS materno infantile Burlo Garofolo

Trieste, 34137, Italy

NOT YET RECRUITING

Azienda Ospedaliera Universitaria Integrata

Verona, 37126, Italy

NOT YET RECRUITING

AULSS 8 Berica

Vicenza, 36100, Italy

NOT YET RECRUITING

Study Officials

• Anna Fagotti

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anna Fagotti

CONTACT

+390630157004; anna.fagotti@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2025
• First Posted: November 28, 2025
• Study Start: April 5, 2025
• Primary Completion (Estimated): April 1, 2045
• Study Completion (Estimated): December 31, 2045
• Last Updated: November 28, 2025

Record last verified: 2025-10

Locations

IT (40)