BRCA Mutation Carriers' Platform a Multicenter Study (BRCA_ENDORSE)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: BRCA2 Mutation; BRCA1 Mutation

Treatments: Other: Registration of clinical datas in the platform

Study type: Observational

Funder types: Other

Identifiers

NCT07253051

4224

Details and patient eligibility

About

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.

Enrollment: 10,000 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.