Long-term Oncologic Safety of Nipple Sparing Mastectomy in Women With High Penetrance Germline Pathogenic Variants in Breast Cancer Susceptibility Genes

Status: Recruiting
Location: See all (12) locations...
Intervention Type: Procedure
Study Type: Observational
SUMMARY

Patients with a germline pathogenic variant (GPV) in high-penetrance breast cancer susceptibility genes who are considering risk reducing mastectomy (RRM) often strongly desire to keep their nipple areola complex but inquire as to whether it is safe to do so. Relative to traditional or skin sparing mastectomy (SSM) techniques, nipple sparing mastectomy (NSM) is associated with improved psychosocial and sexual well-being and is significantly better for body image and reducing feelings of disfigurement. Despite this, guidelines have yet to endorse the use of NSM over other RRM techniques, stating that more data and longer follow-up are needed to confirm it as a safe and effective strategy in GPV carriers. As NSM was not routinely adopted in high-risk patient populations undergoing RRM before 2010, there has been little data to inform the long-term oncologic safety of NSM. Well-designed studies have reported low to negligible rates of subsequent breast cancer in BRCA1/2 carriers following NSM, but have been limited by short median follow-up of less than 3 years. The current study is designed to confirm, with longer follow-up, prior findings on the oncologic safety of NSM in unaffected BRCA1/2 carriers. The investigators will also expand data to other high-penetrance GPV carriers, including PALB2, CDH1, PTEN, and TP53, for whom there is little-to-no data on outcomes following RRM.

Eligibility
Participation Requirements
Sex: Female
Minimum Age: 18
Maximum Age: 90
Healthy Volunteers: f
View:

• Assigned female sex at birth

• Age 18 years or older

• Confirmed GPV in BRCA1, BRCA2, PALB2, TP53, CDH1 or PTEN identified on pre-symptomatic genetic testing

Locations
United States
Connecticut
Yale University
RECRUITING
New Haven
Massachusetts
Brigham and Women's Hospital - Dana-Farber Brigham Cancer Center
NOT_YET_RECRUITING
Boston
New York
Memorial Sloan Kettering Cancer Center (MSKCC)
NOT_YET_RECRUITING
New York
Pennsylvania
University of Pennsylvania
RECRUITING
Philadelphia
Other Locations
Australia
University of Melbourne, Peter MacCallum Cancer Center
NOT_YET_RECRUITING
Melbourne
Belgium
Ziekenhuis Aan de Stroom
ACTIVE_NOT_RECRUITING
Antwerp
Canada
University of Calgary
RECRUITING
Calgary
Hamilton Health Sciences
RECRUITING
Hamilton
Jewish General Hospital
RECRUITING
Montreal
CHU de Quebec Université laval
RECRUITING
Québec
Women's College Hospital, University of Toronto
NOT_YET_RECRUITING
Toronto
Portugal
Champalimaud Foundation, University of Lisbon
NOT_YET_RECRUITING
Lisbon
Contact Information
Primary
Stephanie Wong, MD
sm.wong@mcgill.ca
5143408222
Backup
Sarah Sabboobeh, MSc
sarah.sabboobe@ladydavis.ca
5143408222
Time Frame
Start Date: 2025-02-01
Estimated Completion Date: 2028-02-01
Participants
Target number of participants: 4700
Treatments
Risk Reducing Mastectomy
Active surveillance
Related Therapeutic Areas
Sponsors
Leads: Sir Mortimer B. Davis - Jewish General Hospital
Collaborators: Cancer Research Society, Quebec Breast Cancer Foundation

This content was sourced from clinicaltrials.gov