Clinical trial · Observational
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives; Future Implications on Sentinel Lymph Node Biopsy in LMIC: A Single-center Cross-sectional Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| BRCA Mutation | — | UNRESOLVED | — |
| Breast Cancer | Malignant Breast Neoplasm | CURATED_EXACT | 0.92 |
| Genetic Predisposition | — | UNRESOLVED | — |
| Occult Cancer | Malignant Neoplasm | CURATED_BROADER | 0.78 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Histopathological confirmation | Procedure | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Prophylactic risk reducing mastectomy
- description
- 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.
- interventionNames
- Procedure: Histopathological confirmation
Primary outcomes (1)
- measure
- Occult breast cancer frequency
- timeFrame
- cross-sectional study. 2 months required for data collection from hospital records.
- description
- frequency of identification of occult breast cancers among our cohort when prophylactic risk reducing mastectomy is done in mutation carriers.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 20 Years
- Maximum age
- 75 Years
Show eligibility criteria text
Inclusion Criteria: * individuals with positive genetic test results for High-Penetrance Hereditary BC genes, and those who had PRRMs at our center Exclusion Criteria: * individuals who did not give consent and those who had already diagnosed bilateral BCs
References
Publications (4)
- BACKGROUNDSun 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
- BACKGROUNDDaly 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
- BACKGROUNDWong 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
- RESULTAkbar 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