Prognostic implications of ductal carcinoma in situ components in BRCA1/2-positive breast cancer: a retrospective cohort study.

IF 1.2 4区 医学 Q3 SURGERY
Kyung-Hwak Yoon, Eun-Kyu Kim, Hee-Chul Shin
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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.

BRCA1/2 阳性乳腺癌中导管原位癌成分的预后影响:一项回顾性队列研究。
目的:虽然乳腺癌易感基因(BRCA)相关的浸润性乳腺癌已经得到了很好的研究,但BRCA1/2突变患者的导管原位癌(DCIS)报道有限。本研究旨在评估DCIS对BRCA1/2基因病理变异乳腺癌患者预后的差异影响。方法:回顾性分析2003年8月至2022年1月在单一三级转诊中心检测出BRCA1/2突变阳性的乳腺癌患者。比较浸润性导管癌(IDC)合并DCIS患者(IDC-DCIS组,n = 121)和单纯行IDC患者(IDC组,n = 36)的生存结局。结果:157例患者中,65例(41.4%)表现为BRCA1突变,90例(57.3%)表现为BRCA2突变,2例(1.3%)表现为BRCA1/2突变。DCIS成分在BRCA2病理变异中更为常见(BRCA1, 46 [38.0%] vs. BRCA2, 76 [62.4%];P = 0.030)。10年无复发生存率无统计学差异(IDC- dcis, 89.3% vs. IDC, 83.6%;P = 0.989)。亚组分析显示,在BRCA1亚组中,DCIS成分与改善的生存结果相关(BRCA1 IDC-DCIS, 85.5% vs. BRCA1 IDC, 51.0%;P = 0.024)。相反,在BRCA2亚组中,IDC-DCIS患者表现出更差的预后(BRCA1 IDC-DCIS, 85.5% vs. BRCA2 IDC-DCIS, 65.8%;P = 0.045)。结论:DCIS成分的存在在BRCA1和BRCA2突变中具有不同的预后意义。基于DCIS的存在,在确定BRCA1/2突变乳腺癌患者的治疗方案时,可能需要量身定制的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.30
自引率
7.10%
发文量
75
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).
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