Evaluating cancer prevention strategies for women with BRCA1-2 mutations in Italy

InheriteD brEast caNcer iTalian regIsTrY A Retrospective-prospective Observational Cohort Study to Evaluate Cancer Prevention Strategies in Women With a Deleterious Mutation in BRCA1-2

This study is trying to see how different cancer prevention methods work for women with BRCA1 and BRCA2 gene mutations in Italy.

Quick facts

• Study type: Observational
• Enrollment: 78 (estimated)
• Ages: 18 Years and up
• Sex: Female
• Sponsor: Centro di Riferimento Oncologico - Aviano (Academic / other)
• Locations: 12 sites (Aviano, Pordenone and 11 other locations)
• Trial ID: NCT05835739 on ClinicalTrials.gov

What this trial studies

This observational cohort study aims to centralize data on cancer prevention strategies for women carrying deleterious mutations in the BRCA1 and BRCA2 genes. It includes both retrospective and prospective cohorts of women aged 18 and older, with or without a history of breast cancer, who have been admitted to participating centers. The study will assess various risk-reducing strategies, including surveillance, chemoprevention, and prophylactic surgeries, to better understand their effectiveness and impact on patient outcomes.

Who should consider this trial

Good fit: Ideal candidates for this study are women aged 18 and older with documented deleterious mutations in BRCA1 or BRCA2, regardless of their cancer history.

Not a fit: Patients with other malignancies diagnosed within five years prior to BRCA1-2 mutation detection may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into effective cancer prevention strategies for women at high genetic risk of breast and ovarian cancer.

How similar studies have performed: While similar studies have explored risk-reducing strategies for BRCA mutation carriers, this specific approach to centralizing data in Italy is novel.

Eligibility criteria

Inclusion Criteria:

Cohort A (Retrospective):

1. Female sex
2. Age ≥ 18 years
3. Signed informed consent
4. Documented germline deleterious mutation in BRCA1 and/or BRCA2 in people with: i) No history of cancer ii) Radically treated breast cancer iii) Stage IV breast cancer diagnosed after BRCA1-2 mutation detection
5. Admission to the participating Center since 1st of January 2010, prior to site activation

Cohort B (Prospective):

1. Female sex
2. Age ≥ 18 years
3. Signed informed consent
4. Documented germline deleterious mutation in BRCA1 and/or BRCA2 in people with: i) No history of cancer ii) Radically treated breast cancer iii) Stage IV breast cancer diagnosed after BRCA1-2 mutation detection
5. Admission to the participating Center after site activation

Exclusion Criteria:

Cohort A/B (Retrospective/Prospective):

1\. Other malignancies diagnosed within five years prior to BRCA1-2 mutation detection, except for:

* ovarian cancer stage I-II
* basal or squamous cell carcinoma of the skin
* melanoma in situ
* CIS of the cervix

Where this trial is running

Aviano, Pordenone and 11 other locations

• Centro di Riferimento Oncologico - Aviano — Aviano, Pordenone, Italy (Recruiting)
• IRCCS AOU San Martino, IST Genova — Genova, Italy (Recruiting)
• Azienda Ospedaliera Papardo — Messina, Italy (Recruiting)
• ASST Ovest Milanese — Milan, Italy (Recruiting)
• Azienda ospedaliera Universitaria di Modena — Modena, Italy (Recruiting)
• Università degli studi di Napoli Federico II — Naples, Italy (Recruiting)
• Azienda AUSL IRCCS - Reggio Emilia — Reggio Emilia, Italy (Recruiting)
• ASL Roma 1, Santo Spirito — Roma, Italy (Recruiting)
• IFO - Istituto Regina Elena (Oncologia medica 2) — Roma, Italy (Recruiting)
• Policlinico Universitario Gemelli — Roma, Italy (Recruiting)
• Città della salute Torino, PO S. Anna — Torino, Italy (Recruiting)
• ASU FC Azienda Sanitaria Universitaria Friuli Centrale — Udine, Italy (Recruiting)

Conditions Breast Cancer