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BRCA Mutation Carriers' Platform a Multicenter Study

ConditionsBRCA1 MutationBRCA2 Mutation
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age18+
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

Age < 18 years old;

No pathogenetic mutation carriers.

Trial 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.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Registration of clinical datas in the platform

    Other intervention

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

Treatment groups

No treatment groups listed

Trial outcomes

Primary outcomes

1

Collection data about BRCA mutation

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

Time frame
1 day

Secondary outcomes

1

GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS

GEOGRAPHICAL DISTRIBUTION OF BRCA MUTATIONS FOR IDENTIFY THE AREAS WHERE THE INCIDENCE OF THE MUTATION IS HIGHER THAN EXPECTED

Time frame
6 months
2

CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS

CENTRALIZATION OF CASES IN HIGHLY SPECIALIZED CENTERS FOR THE PREVENTION AND TREATMENT OF GENETIC-RELATED CANCER

Time frame
6 months
3

RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND SPECIFIC TYPES OF CANCER

DEFINITION OF THE RELATIONSHIP BETWEEN SPECIFIC MUTATIONS AND THE ONSET OF SPECIFIC TYPES OF CANCER

Time frame
6 months
4

CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION

EVALUATION OF THE ADEQUACY OF THE CRITERIA FOR DETERMINING THE ACCESS TO GENETIC EVALUATION

Time frame
6 months

Other outcomes

Sponsors and contacts

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Lead sponsor

Source ClinicalTrials.gov
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