The Incidence of Occult Malignancy in Contralateral Risk Reducing Mastectomy Among Affected Breast Cancer Gene Mutation Carriers in South Korea.

IF 2.2 4区医学 Q3 ONCOLOGY Journal of Breast Cancer Pub Date : 2025-02-01 DOI:10.4048/jbc.2024.0219

Cho Eun Lee, Dong Seung Shin, Ki Jo Kim, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Byung Joo Chae, Se Kyung Lee, Jai Min Ryu, Goo-Hyun Mun, Jai-Kyong Pyon, Byung-Joon Jeon, Kyongje Woo, Jeong Eon Lee

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Abstract

Purpose: Breast cancer gene (BRCA) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years. We investigated patients who were BRCA mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM.

Methods: Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with BRCA mutation who underwent RRM between January 2010 and November 2023 were included in this study. Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated.

Results: In our institution, 925 patients were identified as BRCA mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. BRCA2 mutation occurred more frequently (54.8%) in the overall BRCA mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as BRCA mutation carriers who underwent contralateral RRM; high proportion of them were BRCA1 mutation carriers. Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations.

Conclusion: The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with BRCA mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.

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目的：乳腺癌基因（BRCA）突变是众所周知的乳腺癌风险因素，近年来临床上对预防性乳房切除术的关注与日俱增。我们对 BRCA 基因突变携带者并接受对侧降低风险乳房切除术（RRM）的患者进行了调查，重点关注对侧 RRM 后隐匿性恶性肿瘤的发生率：方法：对在一家机构接受治疗的乳腺癌患者的前瞻性数据进行回顾性研究。本研究纳入了2010年1月至2023年11月期间接受RRM且BRCA基因突变的患者。在接受对侧RRM的患者中，包括原发癌诊断的患者，以及RRM对侧有隐匿性恶性肿瘤的患者。对原发性乳腺癌和隐匿性恶性肿瘤的人口统计学和病理学进行了评估：结果：在我院，925 名患者被确认为 BRCA 基因突变携带者，320 名患者在接受原发性乳腺癌手术的同时接受了对侧 RRM。在整个 BRCA 基因突变队列中，BRCA2 基因突变发生率较高（54.8%）。此外，我们对 320 名确诊为乳腺癌并被检测出为 BRCA 基因突变携带者的患者进行了对侧 RRM 检查，其中大部分患者为 BRCA1 基因突变携带者。有趣的是，我们发现只有 7 例患者（2.2%）的对侧 RRM 存在隐匿性恶性肿瘤，发病率较低，这与其他国家的报道不同：结论：伴有 BRCA 基因突变的乳腺癌患者对侧乳房隐匿性恶性肿瘤的发生率明显偏低，这可能受到多种因素的影响。韩国筛查利用率的提高和诊断技术的进步降低了RRM隐匿性恶性肿瘤的发生几率，各种病理检查方法也可能影响发病率。

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

Journal of Breast Cancer 医学-肿瘤学

CiteScore

3.80

自引率

4.20%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of Breast Cancer (abbreviated as ''J Breast Cancer'') is the official journal of the Korean Breast Cancer Society, which is issued quarterly in the last day of March, June, September, and December each year since 1998. All the contents of the Journal is available online at the official journal website (http://ejbc.kr) under open access policy. The journal aims to provide a forum for the academic communication between medical doctors, basic science researchers, and health care professionals to be interested in breast cancer. To get this aim, we publish original investigations, review articles, brief communications including case reports, editorial opinions on the topics of importance to breast cancer, and welcome new research findings and epidemiological studies, especially when they contain a regional data to grab the international reader''s interest. Although the journal is mainly dealing with the issues of breast cancer, rare cases among benign breast diseases or evidence-based scientifically written articles providing useful information for clinical practice can be published as well.