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

Breast Cancer Clinical Trial

— IDENTITY  

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05835739
• Other study ID #: CRO-2019-33
• Status: Recruiting
• Start date: August 27, 2019
• Est. completion date: September 30, 2035

Study information

• Verified date: April 2023
• Source: Centro di Riferimento Oncologico - Aviano
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 78
• Est. completion date: September 30, 2035
• Est. primary completion date: September 30, 2025
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Breast Cancer
• Breast Neoplasms

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Centro di Riferimento Oncologico - Aviano

Country where clinical trial is conducted

Italy, 

References & Publications (6)

Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018 Apr 5;4(4):CD002748. doi: 10.1002/14651858.CD002748.pub4. — View Citation

Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, Tilanus-Linthorst MM, Koppert LB, Obdeijn IM, van Deurzen CH, Collee JM, Seynaeve C, Hooning MJ. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when c — View Citation

King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759. — View Citation

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium; McGuffog L, Evans DG, Barrowdale D, Fro — View Citation

Paul A, Paul S. The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers. Front Biosci (Landmark Ed). 2014 Jan 1;19(4):605-18. doi: 10.2741/4230. — View Citation

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium; Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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	10 years since enrolment
Secondary	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	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	10 years since enrolment
Secondary	To evaluate the treatment of early and/or advanced breast cancer in women with a germline deleterious mutation in BRCA1-2	To evaluate the treatment of early and/or advanced breast cancer in women with a germline deleterious mutation in BRCA1-2	10 years since enrolment
Secondary	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	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	10 years since enrolment