Clinical trial NCT05835739: 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
Official title: 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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Breast Cancer
Lead sponsor: Centro di Riferimento Oncologico - Aviano
Sponsor class: OTHER
First posted: 2023-04-28
Enrollment: 78
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Stage IV breast cancer diagnosed after BRCA1-2 mutation detection

Brief summary: The purpose of the study is to obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy

Detailed description: Women who carry a deleterious mutation in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2) have an elevated lifetime risk of developing breast and ovarian cancer, estimated at up to 7 and 25 times that of the average risk population, respectively. By the age of 80 years, the estimated cumulative risk of breast cancer is about 70% for BRCA1/2 mutation carriers, while the cumulative ovarian cancer risk is about 40% for BRCA1 and 20% for BRCA2 carriers. Thus, BRCA1/2 mutation carriers are advised to consider different risk-reducing strategies, including surveillance (breast self-examination, clinical breast examination, screening using mammography, ultrasound and breast magnetic resonance imaging), chemoprevention and prophylactic surgery (prophylactic mastectomy and/or salpingo-oophorectomy). Prospective cohort studies demonstrate that risk-reducing mastectomy is associated with 90% or more decreased risk of breast cancer. Unfortunately, it is difficult to quantify its effect on overall mortality since no randomized studies have compared risk-reducing mastectomy with enhanced screening, risk-reducing salpingo oophorectomy or prophylactic treatment. Additionally, prophylactic mastectomy is an invasive intervention associated with a substantial complication rate and psychological distress, changes in body image and sexual function. Therefore, as a preventive measure, risk-reducing mastectomy should be discussed on a case-by case basis, after proper counseling regarding benefits, limitations, risks of surgical complications and psychosocial impact. Conversely, risk-reducing salpingo oophorectomy is strongly recommended for women with mutations in BRCA1 (between ages 35 and 40 years) and BRCA2 (between ages 40 and 45 years) after completion of childbearing desire, for a significant reduction in ovarian cancer incidence and all-cause mortality. In the absence of solid evidences coming from randomized clinical trials, the aim of the present study is to collect and centralize real-world data on cancer prevention strategies (prophylactic surgery, prophylactic therapies, active surveillance) and oncologic treatments of women with a deleterious mutation in BRCA1-2 with or without a diagnosis of breast cancer in Italy. By collecting and analyzing these data, the IDENTITY study aims to obtain a faithful representation of the practices related to oncological surveillance in the group of patients analyzed.

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

Primary outcomes:
measure: To obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy
timeFrame: 10 years since enrolment
Secondary outcomes:
measure: To evaluate the clinico-radiological follow-up (type and frequency) of women with a germline deleterious mutation in BRCA1-2 with or without a history of early breast cancer
timeFrame: 10 years since enrolment
measure: To evaluate the treatment of early and/or advanced breast cancer in women with a germline deleterious mutation in BRCA1-2
timeFrame: 10 years since enrolment
measure: To evaluate disease-free survival and/or progression-free survival and overall survival of women with a germline deleterious mutation in BRCA1-2 treated for early and/or advanced breast cancer
timeFrame: 10 years since enrolment
Other outcomes:
Locations:
city: Aviano
country: Italy
facility: Centro di Riferimento Oncologico - Aviano
state: Pordenone
city: Genova
country: Italy
facility: IRCCS AOU San Martino, IST Genova
city: Messina
country: Italy
facility: Azienda Ospedaliera Papardo
city: Milano
country: Italy
facility: ASST Ovest Milanese
city: Modena
country: Italy
facility: Azienda ospedaliera Universitaria di Modena
city: Napoli
country: Italy
facility: Università degli studi di Napoli Federico II
city: Reggio Emilia
country: Italy
facility: Azienda AUSL IRCCS - Reggio Emilia
city: Roma
country: Italy
facility: ASL Roma 1, Santo Spirito
city: Roma
country: Italy
facility: IFO - Istituto Regina Elena (Oncologia medica 2)
city: Roma
country: Italy
facility: Policlinico Universitario Gemelli
city: Torino
country: Italy
facility: Città della salute Torino, PO S. Anna
city: Udine
country: Italy
facility: ASU FC Azienda Sanitaria Universitaria Friuli Centrale
Study officials:
References:
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