RecruitingNCT06888388

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

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


Sponsor

Sir Mortimer B. Davis - Jewish General Hospital

Enrollment

4,700 participants

Start Date

Feb 1, 2025

Study Type

OBSERVATIONAL

Conditions

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

Sex: FEMALEMin Age: 18 YearsMax Age: 90 Years

Plain Language Summary

Simplified for easier understanding

This study tracks long-term outcomes in women who carry high-risk gene mutations (like BRCA1, BRCA2, or others) and chose to have a nipple-sparing mastectomy as a preventive measure before developing breast cancer. Researchers want to know whether keeping the nipple is safe long-term in this high-risk group. **You may be eligible if...** - You were assigned female at birth and are 18 or older - You carry a confirmed high-risk gene mutation in BRCA1, BRCA2, PALB2, TP53, CDH1, or PTEN - You had genetic testing done before a breast cancer diagnosis (preventive testing) **You may NOT be eligible if...** - You had breast cancer or ovarian cancer before your genetic testing - You already had both breasts removed before genetic testing - Your genetic result is uncertain (called a "variant of uncertain significance") without another confirmed high-risk mutation Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

PROCEDURENipple Sparing Mastectomy (NSM)

Nipple sparing mastectomy (NSM) is a surgical procedure which removes all macroscopic breast glandular tissue while retaining the skin as well as the nipple areola complex.

PROCEDURESkin-Sparing Mastectomy (SSM)

Skin sparing mastectomy (SSM) is a procedure that removes the nipple and areola complex along with all visible macroscopic breast glandular tissue.

PROCEDURETotal (Simple) Mastectomy

Total (Simple) Mastectomy is a traditional mastectomy approach that removes the breast glandular tissue with a large overlying area of skin including the nipple and areola complex to allow for flat closure.


Locations(12)

Yale University

New Haven, Connecticut, United States

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

University of Pennsylvania

Philadelphia, Pennsylvania, United States

University of Melbourne, Peter MacCallum Cancer Center

Melbourne, Australia

Ziekenhuis Aan de Stroom

Antwerp, Belgium

University of Calgary

Calgary, Alberta, Canada

Hamilton Health Sciences

Hamilton, Ontario, Canada

Women's College Hospital, University of Toronto

Toronto, Ontario, Canada

Jewish General Hospital

Montreal, Quebec, Canada

CHU de Quebec Université laval

Québec, Quebec, Canada

Champalimaud Foundation, University of Lisbon

Lisbon, Portugal

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NCT06888388


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