BRCA1 MutationBRCA_ENDORSENCT07253051
BRCA Mutation Carriers' Platform a Multicenter Study
An observational study of BRCA1 Mutation and BRCA2 Mutation, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 40 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- BRCA1 Mutation, BRCA2 Mutation
- What is being tested?
- Registration of clinical datas in the platform
- How many people
- 10,000 participants
- Where
- 40 sitesItaly
- Study dates
- 5 Apr 2025to 31 Dec 2045
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Age < 18 years old;
- No pathogenetic mutation carriers.
Trial locations and contacts
40 sites in 1 country. Contact the study team or a site near you to ask about taking part.
40 sites in 1 country
Italy40 sites, 40 recruiting
- Not yet recruiting
Malzoni Research Hospital
Avellino, 83100
Francesca Falcone, francescafalcone@malzoni.org
Francesca Falcone
- Not yet recruiting
Centro di Riferimento Oncologico IRCCS
Aviano, 33081
Antonino Ditto, antonino.ditto@cro.it
Antonino Ditto
- Not yet recruiting
Università degli Studi di Bari "Aldo Moro"
Bari, 70121
Marco Marinaccio, marinacciom@yahoo.it
Marco Marinaccio
- Recruiting
IRCCS Istituto Tumori "Giovanni Paolo II"
Bari, 70124
Vera Loizzi, vera.loizzi@uniba.it
Vera Loizzi
- Not yet recruiting
ASST Papa Giovanni XXIII
Bergamo, 24127
Valentina Ceni, valentina.ceni01@gmail.com
Valentina Ceni
- Not yet recruiting
L'Azienda ospedaliera per l'emergenza "Cannizzaro"
Catania, 95126
Paolo Scollo, paolo.scollo@unikore.it
Paolo Scollo
- Not yet recruiting
Azienda Ospedaliero Santa Croce e Carle
Cuneo, 12100
Marinella Destefanis, destefanis.m@ospedale.cuneo.it
Marinella Destefanis
- Not yet recruiting
Presidio Ospedaliero Umberto I - ASP di Enna
Enna, 94100
Daniela Sambataro, daniela.sambataro@unikore.it
Daniela Sambataro
- Not yet recruiting
Azienda Ospedaliero Universitaria Careggi, Oncologia Medica Ginecologica
Florence, 50134
Maria Cristina Petrella, mariacristina.petrella@gmail.com
Maria Cristina Petrella
- Not yet recruiting
IRCCS Ospedale Policlinico San Martino
Genova, 16132
Lucia Trevisan, +393406098797, lucia.trevisan@hsanmartino.it
Lucia Trevisan
- Not yet recruiting
Ospedale S. Maria Goretti, Latina
Latina, 04100
Teresa Di Palma, t.dipalma@ausl.latina.it
Teresa Di Palma
- Not yet recruiting
Ospedale del Tigullio Polo di Lavagna - ASL 4 Chiavarese
Lavagna, 16033
Stefano Bogliolo, dr.bogliolo@gmail.com
Stefano Bogliolo
- Not yet recruiting
Ospedale Vito Fazzi, Lecce
Lecce, 73100
Elisabetta De Matteis, dr.dematteis.elisabetta@gmail.com
Elisabetta De Matteis
- Not yet recruiting
Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori"
Meldola, 47014
Valentina Arcangeli, valentina.arcangeli@auslromagna.it
Valentina Arcangeli
- Not yet recruiting
IRCCS Ospedale San Raffaele
Milan, 20132
Emanuela Rabaiotti, rabaiotti.emanuela@hsr.it
Emanuela Rabaiotti
- Not yet recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, 20133
Giovanna Scarfone, giovi.scarfone@gmail.com
Giovanna Scarfone
- Not yet recruiting
Humanitas San Pio X - Milano
Milan, 20159
Margherita Turinetto, margherita.turinetto@sanpiox.humanitas.it
Margherita Turinetto
- Not yet recruiting
Presidio Ospedaliero di Mirano
Mirano, 30035
Alessandra Baldoni, alessandra.baldoni@aulss3.veneto.it
Alessandra Baldoni
- Recruiting
Fondazione IRCCS San Gerardo dei Tintori
Monza, 20900
Robert Fruscio, robert.fruscio@unimib.it
Robert Fruscio
- Recruiting
Istituto Nazionale Tumori Fondazione G. Pascale
Naples, 80131
Jole Ventriglia, j.ventriglia@istitutotumori.na.it
Jole Ventriglia
- Not yet recruiting
Ospedale Mater Olbia
Olbia, 07026
Ivano Raimondo, pwraimo@gmail.com
Ivano Raimondo
- Not yet recruiting
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
Palermo, 90127
Lorena Incorvaia, lorena.incorvaia@unipa.it
Lorena Incorvaia
- Not yet recruiting
Azienda Ospedaliera Universitaria di Parma
Parma, 43126
Angelica Sikokis, asikokis@ao.pr.it
Angelica Sikokis
- Not yet recruiting
Azienda Ospedaliero-Universitaria di Parma
Parma, 43126
Roberto Berretta, roberto.berretta@unipr.it
Roberto Berretta
- Not yet recruiting
Centro Nazionale di Adroterapia Oncologica
Pavia, 27100
Amelia Barcellini, amelia.barcellini@cnao.it
Amelia Barcellini
- Not yet recruiting
Fondazione I.R.C.C.S. Policlinico San Matteo
Pavia, 27100
Chiara Cassani, ch.cassani@smatteo.pv.it
Chiara Cassani
- Not yet recruiting
Azienda Ospedaliero Universitaria Pisana
Pisa, 56100
Tommaso Simoncini, tommaso.simoncini@med.unipi.it
Tommaso Simoncini
- Not yet recruiting
Istituto Nazionale Tumori Regina Elena
Roma, 00144
Rosanna Mancari, mancarirosanna@gmail.com
Rosanna Mancari
- Not yet recruiting
Istituto Nazionale Tumori Regina Elena
Roma, 00144
Antonella Savarese, antonella.savarese@ifo.it
Antonella Savarese
- Not yet recruiting
Policlinico Umberto I Università "La Sapienza"
Roma, 00161
Innocenza Palaia, innocenza.palaia@uniroma1.it
Innocenza Palaia
- Recruiting
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Ginecologia Oncologica
Rome, 00168
Claudia Marchetti, +390630156485, claudia.marchetti@policlinicogemelli.it
Anna Fagotti
- Not yet recruiting
Azienda Ospedaliera Universitaria Senese
Siena, 53100
Salvatora Tindara Miano, s.miano@ao-siena.toscana.it
Salvatora Tindara Miano
- Not yet recruiting
Ospedale G. Mazzini di Teramo
Teramo, 64100
Katia Cannita, katia.cannita@aslteramo.it
Katia Cannita
- Not yet recruiting
Azienda sanitaria universitaria Friuli Centrale
Tolmezzo, 33028
Martina Arcieri, martina.arcieri89@gmail.com
Martina Arcieri
- Not yet recruiting
Azienda Ospedaliero Universitaria Citta della Salute e della Scienza di Torino
Torino, 10126
Elisa Picardo, epicardo@cittadellasalute.to.it
Elisa Picardo
- Not yet recruiting
Ospedale Mauriziano Umberto I
Torino, 10128
Valentina Tuninetti, dr.ssatuninettivalentina@gmail.com
Valentina Tuninetti
- Not yet recruiting
Azienda ULSS 2 MARCA TREVIGIANA
Treviso, 31100
Grazia Artioli, grazia.artioli@aulss2.veneto.it
Grazia Artioli
- Not yet recruiting
IRCCS materno infantile Burlo Garofolo
Trieste, 34137
Gabriella Zito, gabriella.zito@burlo.trieste.it
Gabriella Zito
- Not yet recruiting
Azienda Ospedaliera Universitaria Integrata
Verona, 37126
Veronica Parolin, veronica.parolin@aovr.veneto.it
Veronica Parolin
- Not yet recruiting
AULSS 8 Berica
Vicenza, 36100
Lucia Borgato, lucia.borgato@aulss8.veneto.it
Lucia Borgato
About this study
Official title: BRCA Mutation Carriers' Platform, a Multicenter Study
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
- Being tested
- Registration of clinical datas in the platform
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Registration of clinical datas in the platformOther
Registration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection data about BRCA mutation
To collect data of each female individual carrying a BRCA1 or BRCA2 mutation
Measured: 1 day
Secondary outcomes (7)
GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS
GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS FOR IDENTIFY THE AREAS WHERE THE INCIDENCE OF THE MUTATION IS HIGHER THAN EXPECTED
Measured: 6 months
CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS
CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS FOR THE PREVENTION AND TREATMENT OF GENETIC-RELATED CANCER
Measured: 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
Measured: 6 months
CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION
EVALUATION OF THE ADEQUACY OF THE CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION
Measured: 6 months
LIFESTYLE RISK FACTORS
DEFINITION OF LIFESTYLE RISK FACTORS FOR THE DEVELOPMENT OF TUMORS IN BRCA MUTATION CARRIERS
Measured: 6 months
DEFINITION OF PREVENTIVE STRATEGIES
HEALTHY SUBJECTS: DEFINITION OF RISK REDUCING OR PREVENTIVE STRATEGIES
Measured: 6 months
Risk-reducing salpingo-oophorectomy
MANAGEMENT OF WOMEN AFTER RRSO (risk-reducing salpingo-oophorectomy) AFTER SURGERY
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Nov 2025
- Study start5 Apr 2025
- Primary completion1 Apr 2045 (estimated)
- Study completion31 Dec 2045 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA1 MutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Anna Fagotti, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07253051
- Sponsor's protocol ID
- 4224
- Acronym
- BRCA_ENDORSE
- Status last verified
- Oct 2025
- First submitted
- 19 Nov 2025
- Last updated
- 28 Nov 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- BRCA Mutation Carriers' Platform, a Multicenter Study
- ClinicalTrials.gov ID
- NCT07253051
- Acronym / sponsor ID
- BRCA_ENDORSE / 4224
- Conditions
- BRCA1 Mutation, BRCA2 Mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 5 Apr 2025 (actual)
- Primary completion
- 1 Apr 2045 (estimated)
- Study completion
- 31 Dec 2045 (estimated)
- First posted
- 28 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- Age < 18 years old;
- No pathogenetic mutation carriers.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Registration of clinical datas in the platformRegistration of clinical datas in the platform of female individual carrying a BRCA1 or BRCA2 mutation | Other | – |
Primary outcome
Collection data about BRCA mutation
Time frame: 1 day
To collect data of each female individual carrying a BRCA1 or BRCA2 mutation
7 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2025.
Related trials for BRCA1 Mutation
Active, not recruitingPhase 2
Testing AZD1775 as a Potential Targeted Treatment in Cancers With BRCA Genetic Changes (MATCH-Subprotocol Z1I)
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
RecruitingPhase 2
APOLLO: A Randomized Phase II Double-Blind Study of Olaparib Versus Placebo Following Curative Intent Therapy in Patients With Resected Pancreatic Cancer and a Pathogenic BRCA1, BRCA2 or PALB2 Mutation
Pancreatic Acinar Cell Carcinoma, Pancreatic Adenosquamous Carcinoma
RecruitingObservational study
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations
Active, not recruitingObservational study
Evaluating the Effects of Genetic Testing on Patients' Stress Levels
Breast Cancer
RecruitingPhase 3
The Cancer of the Pancreas Screening-5 CAPS5)Study
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anna Fagotti principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
40 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of BRCA1 Mutation and BRCA2 Mutation, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 40 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 40 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anna Fagotti (+390630157004, anna.fagotti@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection data about BRCA mutation (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Nov 2025.