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Purpose

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.

Condition

Eligibility

Eligible Ages
Between 18 Years and 90 Years
Eligible Sex
Female
Accepts Healthy Volunteers
No

Inclusion Criteria

  • 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

Exclusion Criteria

  • 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.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Retrospective

Arm Groups

ArmDescriptionAssigned Intervention
Risk Reducing Mastectomy
  • Procedure: Nipple 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.
  • Procedure: Skin-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.
  • Procedure: Total (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.
Active surveillance

Recruiting Locations

Yale University
New Haven 4839366, Connecticut 4831725 06510
Contact:
Jacqueline Moses
jacki.moses@yale.edu

University of Pennsylvania
Philadelphia 4560349, Pennsylvania 6254927 19104-6205
Contact:
Catherine Wolfe
catherine.wolfe@pennmedicine.upenn.edu

More Details

Status
Recruiting
Sponsor
Sir Mortimer B. Davis - Jewish General Hospital

Study Contact

Stephanie Wong, MD
5143408222
sm.wong@mcgill.ca

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.