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

Recruiting now

Conditions studied: Breast Cancer Surgery

In brief

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.

Key facts

Study ID

NCT06888388

Run by

Sir Mortimer B. Davis - Jewish General Hospital

People needed

4700

Starts

2025-02-01

Expected to finish

2028-02-01

Last updated by the study team

2025-12-08

Who can join

Age: 18 and older, up to 90. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• History of breast cancer prior to genetic testing
• History of ovarian cancer prior to genetic testing
• History of bilateral mastectomy performed prior to genetic testing
• Presence of a variant of uncertain significance (VUS) in the absence of another GPV in BRCA1, BRCA2, PALB2, TP53, CDH1 or PTEN.

Where it is running

• Yale University — New Haven, Connecticut, United States (enrolling)
• University of Pennsylvania — Philadelphia, Pennsylvania, United States (enrolling)
• University of Calgary — Calgary, Alberta, Canada (enrolling)
• Hamilton Health Sciences — Hamilton, Ontario, Canada (enrolling)
• Jewish General Hospital — Montreal, Quebec, Canada (enrolling)
• CHU de Quebec Université laval — Québec, Quebec, Canada (enrolling)
• Women's College Hospital, University of Toronto — Toronto, Ontario, Canada
• Brigham and Women's Hospital - Dana-Farber Brigham Cancer Center — Boston, Massachusetts, United States
• Memorial Sloan Kettering Cancer Center (MSKCC) — New York, New York, United States
• Champalimaud Foundation, University of Lisbon — Lisbon, Portugal
• University of Melbourne, Peter MacCallum Cancer Center — Melbourne, Australia
• Ziekenhuis Aan de Stroom — Antwerp, Belgium

Full record on ClinicalTrials.gov

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