Trial 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
NCT ID:
NCT05835739
Condition:
Breast Cancer
Conditions: Official terms:
Breast Neoplasms
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Prospective
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.
Criteria for eligibility:
Study pop:
Stage IV breast cancer diagnosed after BRCA1-2 mutation detection
Sampling method:
Non-Probability Sample
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
Gender:
Female
Minimum age:
18 Years
Maximum age:
N/A
Healthy volunteers:
No
Locations:
Facility:
Name:
Centro di Riferimento Oncologico - Aviano
Address:
City:
Aviano
Zip:
33081
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Fabio Puglisi, MD
Phone:
0434 659310
Email:
fabio.puglisi@cro.it
Contact backup:
Last name:
Antonella Spada, MD
Phone:
0434 659077
Email:
spadaa@cro.it
Facility:
Name:
IRCCS AOU San Martino, IST Genova
Address:
City:
Genova
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Lucia Del Mastro
Phone:
0
Email:
lucia.delmastro@unige.it
Facility:
Name:
Azienda Ospedaliera Papardo
Address:
City:
Messina
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Vincenzo Adamo
Phone:
0
Email:
vadamo@unime.it
Facility:
Name:
ASST Ovest Milanese
Address:
City:
Milano
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Elena Collovà
Phone:
0
Email:
elena.collova@asst-ovestmi.it
Facility:
Name:
Azienda ospedaliera Universitaria di Modena
Address:
City:
Modena
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Cortesi Laura
Phone:
0
Email:
hbc@unimore.it
Facility:
Name:
Università degli studi di Napoli Federico II
Address:
City:
Napoli
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Arpino Grazia
Phone:
0
Email:
grazia.arpino@unina.it
Facility:
Name:
Azienda AUSL IRCCS - Reggio Emilia
Address:
City:
Reggio Emilia
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Alessandra Bologna
Phone:
0
Email:
Alessandra.Bologna@ausl.re.it
Facility:
Name:
ASL Roma 1, Santo Spirito
Address:
City:
Roma
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Valentina Sini
Phone:
0
Email:
valentina.sini@aslroma1.it
Facility:
Name:
IFO - Istituto Regina Elena (Oncologia medica 2)
Address:
City:
Roma
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Patrizia Vici
Phone:
0
Email:
patrizia.vici@ifo.gov.it
Facility:
Name:
Policlinico Universitario Gemelli
Address:
City:
Roma
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Alessandra Fabi
Phone:
0
Email:
alessandra.fabi@policlinicogemelli.it
Facility:
Name:
Città della salute Torino, PO S. Anna
Address:
City:
Torino
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Elisa Picardo
Phone:
0
Email:
breastunitpelvi@cittadelladellasalute.to.it
Facility:
Name:
ASU FC Azienda Sanitaria Universitaria Friuli Centrale
Address:
City:
Udine
Country:
Italy
Status:
Recruiting
Contact:
Last name:
Claudia Andreetta
Phone:
043255930
Email:
claudia.andreetta@asufc.sanita.fvg.it
Start date:
August 27, 2019
Completion date:
September 30, 2035
Lead sponsor:
Agency:
Centro di Riferimento Oncologico - Aviano
Agency class:
Other
Source:
Centro di Riferimento Oncologico - Aviano
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05835739
