Park Woong Ki, Chung Soo Yeon, Jung You Jin, Ha Changhee, Kim Jong-Won, Nam Seok Jin, Kim Seok Won, Yu Jonghan, Chae Byung Joo, Lee Jeong Eon, Kim Sung-Won, Ryu Jai Min
Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Sungkyunkwan University School of Medicine, Seoul, South Korea.
NPJ Precis Oncol. 2024 Apr 30;8(1):96. doi: 10.1038/s41698-024-00559-0.
Triple-negative breast cancer (TNBC) patients are more likely to have BRCA1/2 mutations, with a prevalence rate of about 10-20%. Although several studies have analyzed the oncologic outcomes between BRCA1/2 carriers and non-carriers, the impact on breast cancer patients is still unclear. A retrospective review was performed to determine the long-term outcomes of TNBC patients, focusing on the impact of BRCA1/2 mutations. A total of 953 TNBC patients who underwent primary breast cancer surgery from June 2008 to January 2016 were included. We examined long-term outcomes, including contralateral breast cancer (CBC) incidence, recurrence patterns, and survival rates over a median follow-up of 80.9 months (range 3-152 months). 122 patients (12.8%) had BRCA1/2 mutations. BRCA1/2 mutation carriers were significantly younger at diagnosis and more likely to have a family history of breast/ovarian cancer. CBC incidence at 60, 120, and 150 months was significantly higher in BRCA1/2 mutation carriers compared to non-carriers (P = 0.0250, 0.0063, and 0.0184, respectively). However, there were no significant differences in disease-free survival, overall survival, breast cancer-specific survival, or distant-metastasis-free survival between the two groups. BRCA1/2 mutation status was a significant risk factor for CBC (HR = 6.242, P < 0.0001). Interestingly, among 29 patients with CBC recurrence, 24 patients (82.8%) had recurring TNBC subtype and among the CBC recurrence patients, 19 patients (65.5%) resumed chemotherapy. In the TNBC subtype, appropriate genetic testing and counseling are pivotal for surgical decisions like risk-reducing mastectomy (RRM). Furthermore, long-term surveillance is warranted, especially in BRCA1/2 carriers who did not receive RRM.
三阴性乳腺癌（TNBC）患者更有可能携带BRCA1/2突变，其患病率约为10%-20%。尽管多项研究分析了BRCA1/2携带者与非携带者之间的肿瘤学结局，但对乳腺癌患者的影响仍不明确。本研究进行了一项回顾性分析，以确定TNBC患者的长期结局，重点关注BRCA1/2突变的影响。共纳入了2008年6月至2016年1月期间接受原发性乳腺癌手术的953例TNBC患者。我们检查了长期结局，包括对侧乳腺癌（CBC）发病率、复发模式以及中位随访80.9个月（范围3-152个月）的生存率。122例患者（12.8%）携带BRCA1/2突变。BRCA1/2突变携带者在诊断时显著更年轻，且更有可能有乳腺癌/卵巢癌家族史。与非携带者相比，BRCA1/2突变携带者在60、120和150个月时的CBC发病率显著更高（P分别为0.0250、0.0063和0.0184）。然而，两组之间的无病生存率、总生存率、乳腺癌特异性生存率或无远处转移生存率没有显著差异。BRCA1/2突变状态是CBC的一个显著危险因素（HR=6.242，P<0.0001）。有趣的是，在29例CBC复发患者中，24例（82.8%）复发为TNBC亚型，在CBC复发患者中，19例（65.5%）恢复了化疗。在TNBC亚型中，适当的基因检测和咨询对于诸如降低风险的乳房切除术（RRM）等手术决策至关重要。此外，有必要进行长期监测，尤其是对于未接受RRM的BRCA1/2携带者。
