BRCA Mutation Carriers' Platform a Multicenter Study (BRCA_ENDORSE)

November 19, 2025 updated by: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Avellino, Italy, 83100
        • Not yet recruiting
        • Malzoni Research Hospital
        • Contact:
        • Principal Investigator:
          • Francesca Falcone
      • Aviano, Italy, 33081
        • Not yet recruiting
        • Centro di Riferimento Oncologico IRCCS
        • Contact:
        • Principal Investigator:
          • Antonino Ditto
      • Bari, Italy, 70124
        • Recruiting
        • IRCCS Istituto Tumori "Giovanni Paolo II"
        • Contact:
        • Principal Investigator:
          • Vera Loizzi
      • Bari, Italy, 70121
        • Not yet recruiting
        • Università degli studi di Bari "Aldo Moro"
        • Contact:
        • Principal Investigator:
          • Marco Marinaccio
      • Bergamo, Italy, 24127
        • Not yet recruiting
        • ASST Papa Giovanni XXIII
        • Contact:
        • Principal Investigator:
          • Valentina Ceni
      • Catania, Italy, 95126
        • Not yet recruiting
        • L'Azienda ospedaliera per l'emergenza "Cannizzaro"
        • Contact:
        • Principal Investigator:
          • Paolo Scollo
      • Cuneo, Italy, 12100
        • Not yet recruiting
        • Azienda Ospedaliero Santa Croce e Carle
        • Contact:
        • Principal Investigator:
          • Marinella Destefanis
      • Enna, Italy, 94100
        • Not yet recruiting
        • Presidio Ospedaliero Umberto I - ASP di Enna
        • Contact:
        • Principal Investigator:
          • Daniela Sambataro
      • Florence, Italy, 50134
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Careggi, Oncologia Medica Ginecologica
        • Contact:
        • Principal Investigator:
          • Maria Cristina Petrella
      • Genova, Italy, 16132
        • Not yet recruiting
        • IRCCS Ospedale Policlinico San Martino
        • Contact:
        • Principal Investigator:
          • Lucia Trevisan
      • Latina, Italy, 04100
        • Not yet recruiting
        • Ospedale S. Maria Goretti, Latina
        • Contact:
        • Principal Investigator:
          • Teresa Di Palma
      • Lavagna, Italy, 16033
        • Not yet recruiting
        • Ospedale del Tigullio Polo di Lavagna - ASL 4 Chiavarese
        • Contact:
        • Principal Investigator:
          • Stefano Bogliolo
      • Lecce, Italy, 73100
        • Not yet recruiting
        • Ospedale Vito Fazzi, Lecce
        • Contact:
        • Principal Investigator:
          • Elisabetta De Matteis
      • Meldola, Italy, 47014
        • Not yet recruiting
        • Istituto Romagnolo per lo Studio dei Tumori "Dino Amadori"
        • Contact:
        • Principal Investigator:
          • Valentina Arcangeli
      • Milan, Italy, 20132
        • Not yet recruiting
        • IRCCS Ospedale San Raffaele
        • Contact:
        • Principal Investigator:
          • Emanuela Rabaiotti
      • Milan, Italy, 20133
        • Not yet recruiting
        • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
        • Contact:
        • Principal Investigator:
          • Giovanna Scarfone
      • Milan, Italy, 20159
      • Mirano, Italy, 30035
      • Monza, Italy, 20900
        • Recruiting
        • Fondazione IRCCS San Gerardo dei Tintori
        • Contact:
        • Principal Investigator:
          • Robert Fruscio
      • Napoli, Italy, 80131
        • Recruiting
        • Istituto Nazionale Tumori Fondazione G. Pascale
        • Contact:
        • Principal Investigator:
          • Jole Ventriglia
      • Olbia, Italy, 07026
        • Not yet recruiting
        • Ospedale Mater Olbia
        • Contact:
        • Principal Investigator:
          • Ivano Raimondo
      • Palermo, Italy, 90127
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
        • Contact:
        • Principal Investigator:
          • Lorena Incorvaia
      • Parma, Italy, 43126
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria di Parma
        • Contact:
        • Principal Investigator:
          • Angelica Sikokis
      • Parma, Italy, 43126
        • Not yet recruiting
        • Azienda Ospedaliero-Universitaria di Parma
        • Contact:
        • Principal Investigator:
          • Roberto Berretta
      • Pavia, Italy, 27100
        • Not yet recruiting
        • Centro Nazionale di Adroterapia Oncologica
        • Contact:
        • Principal Investigator:
          • Amelia Barcellini
      • Pavia, Italy, 27100
        • Not yet recruiting
        • Fondazione I.R.C.C.S. Policlinico San Matteo
        • Contact:
        • Principal Investigator:
          • Chiara Cassani
      • Pisa, Italy, 56100
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Pisana
        • Contact:
        • Principal Investigator:
          • Tommaso Simoncini
      • Roma, Italy, 00144
        • Not yet recruiting
        • Istituto Nazionale Tumori Regina Elena
        • Principal Investigator:
          • Antonella Savarese
        • Contact:
      • Roma, Italy, 00161
        • Not yet recruiting
        • Policlinico Umberto I Università "La Sapienza"
        • Contact:
        • Principal Investigator:
          • Innocenza Palaia
      • Rome, Italy, 00168
        • Recruiting
        • Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UOC Ginecologia Oncologica
        • Principal Investigator:
          • Anna Fagotti
        • Contact:
        • Sub-Investigator:
          • Claudia Marchetti
      • Siena, Italy, 53100
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria Senese
        • Contact:
        • Principal Investigator:
          • Salvatora Tindara Miano
      • Teramo, Italy, 64100
        • Not yet recruiting
        • Ospedale G. Mazzini di Teramo
        • Contact:
        • Principal Investigator:
          • Katia Cannita
      • Tolmezzo, Italy, 33028
        • Not yet recruiting
        • Azienda Sanitaria Universitaria Friuli Centrale
        • Principal Investigator:
          • Martina Arcieri
        • Contact:
      • Torino, Italy, 10126
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino
        • Contact:
        • Principal Investigator:
          • Elisa Picardo
      • Torino, Italy, 10128
      • Treviso, Italy, 31100
      • Trieste, Italy, 34137
        • Not yet recruiting
        • IRCCS Materno Infantile Burlo Garofolo
        • Contact:
        • Principal Investigator:
          • Gabriella Zito
      • Verona, Italy, 37126
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria Integrata
        • Contact:
        • Principal Investigator:
          • Veronica Parolin
      • Vicenza, Italy, 36100

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Collection data about BRCA mutation
Time Frame: 1 day
To collect data of each female individual carrying a BRCA1 or BRCA2 mutation
1 day

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS
Time Frame: 6 months
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
Time Frame: 6 months
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
Time Frame: 6 months
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
Time Frame: 6 months
EVALUATION OF THE ADEQUACY OF THE CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION
6 months
LIFESTYLE RISK FACTORS
Time Frame: 6 months
DEFINITION OF LIFESTYLE RISK FACTORS FOR THE DEVELOPMENT OF TUMORS IN BRCA MUTATION CARRIERS
6 months
DEFINITION OF PREVENTIVE STRATEGIES
Time Frame: 6 months
HEALTHY SUBJECTS: DEFINITION OF RISK REDUCING OR PREVENTIVE STRATEGIES
6 months
Risk-reducing salpingo-oophorectomy
Time Frame: 6 months
MANAGEMENT OF WOMEN AFTER RRSO (risk-reducing salpingo-oophorectomy) AFTER SURGERY
6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Investigators

  • Principal Investigator: Anna Fagotti, Fondazione Policlinico Universitario A. Gemelli, IRCCS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 5, 2025

Primary Completion (Estimated)

April 1, 2045

Study Completion (Estimated)

December 31, 2045

Study Registration Dates

First Submitted

November 19, 2025

First Submitted That Met QC Criteria

November 19, 2025

First Posted (Actual)

November 28, 2025

Study Record Updates

Last Update Posted (Actual)

November 28, 2025

Last Update Submitted That Met QC Criteria

November 19, 2025

Last Verified

October 1, 2025

More Information

Terms related to this study

Other Study ID Numbers

  • 4224

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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