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

Официальное название

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

Обзор

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.

Вмешательства

• Процедура 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.
• Процедура 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.
• Процедура 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.

Первичные конечные точки

• Incidence of breast cancer following RRM [Срок оценки: 10 years]

Вторичные конечные точки (5)

• Incidence of RRM [Срок оценки: 10 years]
• Incidence of post-operative complications [Срок оценки: 10 years]
• Incidence of pathologic outcomes following NSM [Срок оценки: 10 years]
• Number of participants using endocrine prevention [Срок оценки: 10 years]
• Number of participants who have undergone pre-mastectomy imaging and post-mastectomy surveillance [Срок оценки: 10 years]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Канада · 5 центров

• University of Calgary — Calgary
• Hamilton Health Sciences — Hamilton
• Women's College Hospital, University of Toronto — Toronto
• Jewish General Hospital — Montreal
• CHU de Quebec Université laval — Québec

США · 4 центра

• Yale University — New Haven
• Brigham and Women's Hospital - Dana-Farber Brigham Cancer Center — Boston
• Memorial Sloan Kettering Cancer Center (MSKCC) — New York
• University of Pennsylvania — Philadelphia

Австралия · 1 центр

• University of Melbourne, Peter MacCallum Cancer Center — Melbourne

Бельгия · 1 центр

• Ziekenhuis Aan de Stroom — Antwerp

Португалия · 1 центр

• Champalimaud Foundation, University of Lisbon — Lisbon

Идентификаторы

NCT: NCT06888388 · MP-05-2025-4291 (MP)

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗