{"title":"Prognostic implications of ductal carcinoma <i>in situ</i> components in <i>BRCA1/2</i>-positive breast cancer: a retrospective cohort study.","authors":"Kyung-Hwak Yoon, Eun-Kyu Kim, Hee-Chul Shin","doi":"10.4174/astr.2024.107.6.327","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Although the breast cancer susceptibility gene <i>(BRCA)</i>-associated invasive breast cancer is well studied, there are limited reports on ductal carcinoma <i>in situ</i> (DCIS) in patients with <i>BRCA1/2</i> mutations. This study aims to evaluate the differential prognostic effect of DCIS in breast cancer patients with pathologic variants of <i>BRCA1/2</i> genes.</p><p><strong>Methods: </strong>Breast cancer patients who tested positive for <i>BRCA1/2</i> mutations between August 2003 and January 2022 at a single tertiary referral center were retrospectively analyzed. Survival outcomes were compared between patients with both invasive ductal carcinoma (IDC) and DCIS (IDC-DCIS group, n = 121) and those with IDC alone (IDC group, n = 36).</p><p><strong>Results: </strong>Of the 157 patients, 65 (41.4%) exhibited mutations in <i>BRCA1</i>, 90 (57.3%) in <i>BRCA2</i>, and 2 (1.3%) in both <i>BRCA1/2</i>. DCIS components were more frequently found in <i>BRCA2</i> pathological variants (<i>BRCA1</i>, 46 [38.0%] <i>vs.</i> <i>BRCA2</i>, 76 [62.4%]; P = 0.030). No statistically significant difference was found in 10-year recurrence-free survival (IDC-DCIS, 89.3% <i>vs.</i> IDC, 83.6%; P = 0.989). Subgroup analysis indicated that the DCIS component correlated with improved survival outcomes in the <i>BRCA1</i> subgroup (<i>BRCA1</i> IDC-DCIS, 85.5% <i>vs.</i> <i>BRCA1</i> IDC, 51.0%; P = 0.024). Conversely, in the <i>BRCA2</i> subgroup, IDC-DCIS patients exhibited a worse prognosis (<i>BRCA1</i> IDC-DCIS, 85.5% <i>vs.</i> <i>BRCA2</i> IDC-DCIS, 65.8%; P = 0.045).</p><p><strong>Conclusion: </strong>The presence of a DCIS component carries varied prognostic significance in <i>BRCA1</i> and <i>BRCA2</i> mutations. A tailored approach may be necessary when determining treatment options for breast cancer patients with <i>BRCA1/2</i> mutations based on the presence of DCIS.</p>","PeriodicalId":8071,"journal":{"name":"Annals of Surgical Treatment and Research","volume":"107 6","pages":"327-335"},"PeriodicalIF":1.2000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634396/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Surgical Treatment and Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4174/astr.2024.107.6.327","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"SURGERY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: Although the breast cancer susceptibility gene (BRCA)-associated invasive breast cancer is well studied, there are limited reports on ductal carcinoma in situ (DCIS) in patients with BRCA1/2 mutations. This study aims to evaluate the differential prognostic effect of DCIS in breast cancer patients with pathologic variants of BRCA1/2 genes.
Methods: Breast cancer patients who tested positive for BRCA1/2 mutations between August 2003 and January 2022 at a single tertiary referral center were retrospectively analyzed. Survival outcomes were compared between patients with both invasive ductal carcinoma (IDC) and DCIS (IDC-DCIS group, n = 121) and those with IDC alone (IDC group, n = 36).
Results: Of the 157 patients, 65 (41.4%) exhibited mutations in BRCA1, 90 (57.3%) in BRCA2, and 2 (1.3%) in both BRCA1/2. DCIS components were more frequently found in BRCA2 pathological variants (BRCA1, 46 [38.0%] vs.BRCA2, 76 [62.4%]; P = 0.030). No statistically significant difference was found in 10-year recurrence-free survival (IDC-DCIS, 89.3% vs. IDC, 83.6%; P = 0.989). Subgroup analysis indicated that the DCIS component correlated with improved survival outcomes in the BRCA1 subgroup (BRCA1 IDC-DCIS, 85.5% vs.BRCA1 IDC, 51.0%; P = 0.024). Conversely, in the BRCA2 subgroup, IDC-DCIS patients exhibited a worse prognosis (BRCA1 IDC-DCIS, 85.5% vs.BRCA2 IDC-DCIS, 65.8%; P = 0.045).
Conclusion: The presence of a DCIS component carries varied prognostic significance in BRCA1 and BRCA2 mutations. A tailored approach may be necessary when determining treatment options for breast cancer patients with BRCA1/2 mutations based on the presence of DCIS.
期刊介绍:
Manuscripts to the Annals of Surgical Treatment and Research (Ann Surg Treat Res) should be written in English according to the instructions for authors. If the details are not described below, the style should follow the Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Writing and Editing for Biomedical Publications available at International Committee of Medical Journal Editors (ICMJE) website (http://www.icmje.org).