Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives

NCT05771454 | Completed DMC

• 1 other identifier: 2022-8048-23560
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief Summary

The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for prophylactic reasons without proven malignancy. Literature has reported a positive Occult Breast Cancer (OBC) rate of 0 to 11.3% among mastectomy specimens which are removed prophylactically. Majority of the time when the invasive focus is diagnosed in prophylactic mastectomy specimens they are found to be in-situ cases where axillary Staging using SLNB can be exempted; however, when the OBC is identified even in prophylactic mastectomy specimens, axilla should be addressed accordingly. Albeit SLNB has associated complications with it; postoperative pain, lymphedema, paresthesia and rare reaction to the injected dye. Therefore the question here arises regarding skipping SLNB among patients who are undergoing PRRMs without proven malignancy pre-operatively. However, before standardizing the practice in our population we need convincing evidence that the frequency of OBC is low among our patients. By identifying the true prevalence of OBC among our gene-positive HBC patients who are opting for PRRM, we would be able to skip SLNB; as not only it has psychological implications but also adds a financial burden on patients and families due to the addition of an extra procedure and hospital bills; as the financial and socioeconomic status of our population has already declined over last few years due to the economic crises faced worldwide, specifically after-affects are seen in Lower Middle-Income Country(LMIC) like Pakistan.

Conditions

Genetic Predisposition; BRCA Mutation; Breast Cancer; Occult Cancer

Outcome Measures

Primary Outcomes (1)

• Occult breast cancer frequency

  frequency of identification of occult breast cancers among our cohort when prophylactic risk reducing mastectomy is done in mutation carriers.

  cross-sectional study. 2 months required for data collection from hospital records.

Study Arms (1)

Prophylactic risk reducing mastectomy

Patients who underwent genetic testing and came out positive for BRCA and other genes of breast cancer; afterwards opted for prophylactic risk-reducing mastectomy. After mastectomy, the specimens will be assessed for the presence of occult breast cancers in removed specimens. Histopathology is set as gold standard for occult breast cancer confirmation.

Procedure: Histopathological confirmation

Interventions

Histopathological confirmation PROCEDURE

After mastectomy, each specimen will be assessed histopathologically for the presence or absence of invasive focus of breast cancer.

Prophylactic risk reducing mastectomy

Eligibility Criteria

• Age: 20 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All individuals who came out as genetic test positive for high-risk breast cancer genes; carriers/breast cancer patients and who opted for prophylactic risk-reducing mastectomy.

You may qualify if:

• individuals with positive genetic test results for High-Penetrance Hereditary BC genes, and those who had PRRMs at our center

You may not qualify if:

• individuals who did not give consent and those who had already diagnosed bilateral BCs

Sponsors & Collaborators

• Aga Khan University Hospital, Pakistan: lead

Study Sites (1)

Aga Khan University Hospital

Karachi, Sindh, 74000, Pakistan

Location

Related Publications (4)

• Sun YS, Zhao Z, Yang ZN, Xu F, Lu HJ, Zhu ZY, Shi W, Jiang J, Yao PP, Zhu HP. Risk Factors and Preventions of Breast Cancer. Int J Biol Sci. 2017 Nov 1;13(11):1387-1397. doi: 10.7150/ijbs.21635. eCollection 2017.

  PMID: 29209143 BACKGROUND

• Daly M. B†, Pal T, Al Hilli Z, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. NCCN Clinical Practice Guidelines in Oncology. Version 1.2023, 09/07/22 © 2022, [cited 2022 Sep 28]. Available from: https://www.nccn.org/guidelines/guidelines-detail

  BACKGROUND

• Wong SM, Ferroum A, Apostolova C, Alhassan B, Prakash I, Basik M, Boileau JF, Meterissian S, Aleynikova O, Wong N, Foulkes WD. Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated? Ann Surg Oncol. 2022 Oct;29(11):6660-6668. doi: 10.1245/s10434-022-11916-3. Epub 2022 May 26.

  PMID: 35616744 BACKGROUND

• Akbar F, Siddiqui Z, Waheed MT, Ehsan L, Ali SI, Wiquar H, Valimohammed AT, Khan S, Vohra L, Zeeshan S, Rashid Y, Moosajee M, Jabbar AA, Zahir MN, Zahid N, Soomro R, Ullah NN, Ahmad I, Haider G, Ansari U, Rizvi A, Mehboobali A, Sattar A, Kirmani S. Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan. Hered Cancer Clin Pract. 2022 Jun 16;20(1):24. doi: 10.1186/s13053-022-00232-2.

  PMID: 35710434 RESULT

MeSH Terms

Conditions

Genetic Predisposition to Disease; Breast Neoplasms

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr

Study Record Dates

• First Submitted: March 6, 2023
• First Posted: March 16, 2023
• Study Start: January 1, 2023
• Primary Completion: March 30, 2023
• Study Completion: March 30, 2023
• Last Updated: July 19, 2023

Record last verified: 2023-07

Data Sharing

• IPD Sharing: Will not share

Locations

PA (1)