BRCA1/2 野生型高危韩国乳腺癌患者罹患对侧乳腺癌的风险增加:一项回顾性队列研究

IF 6.1 1区 医学 Q1 ONCOLOGY Breast Cancer Research Pub Date : 2024-01-22 DOI:10.1186/s13058-024-01769-x
Eunhye Kang, Ji-Jung Jung, Changjin Lim, Hong-Kyu Kim, Han-Byoel Lee, Wonshik Han, Hyeong-Gon Moon
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摘要

本研究旨在根据 BRCA1/2 基因突变状态调查韩国乳腺癌患者的对侧乳腺癌(CBC)复发率,尤其关注 BRCA1/2 阴性(BRCAx)患者的 CBC 复发风险。我们对 13107 名原发性乳腺癌患者进行了回顾性研究。根据韩国国民健康保险服务局的 BRCA1/2 基因突变检测资格标准,这些患者被分为遗传性乳腺癌的高风险组和低风险组。高风险组又分为 BRCA 基因突变组、BRCAx 组和未检测组。我们评估了这些患者的总生存率和罹患 CBC 的累积风险。在 4494 名高风险患者中,有 973 人(21.7%)接受了 BRCA1/2 基因突变的基因检测,其中有 158 人(16.2%)发现了基因突变。我们观察到所有四组患者的总生存率存在明显差异,其中未接受检测的高风险组患者的总生存率明显较低(P < 0.001)。然而,在对其他预后因素进行调整后,四组患者的死亡危险比没有明显差异。CBC 的累积风险在各组之间也存在差异。与低风险组相比,BRCA1/2 基因突变患者的 CBC 风险增加了 7.3 倍(95% CI 4.11-13.0,p < 0.001)。有趣的是,BRCAx 患者的 CBC 风险也明显更高(HR 2.77,95% CI 1.76-4.35,p <0.001)。在对年龄和亚型进行调整后,BRCAx 对 CBC 复发的预后重要性依然存在,但在对乳腺癌家族史进行调整后,其重要性变得不明显。与低风险患者相比,遗传性乳腺癌高风险但具有野生型 BRCA 1/2 基因(BRCAx)的乳腺癌患者罹患对侧乳腺癌的风险更高。对这些患者,尤其是有乳腺癌家族史的患者,可以进行更仔细的监测和随访。
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Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
This study aimed to investigate the contralateral breast cancer (CBC) recurrence rate in Korean breast cancer patients according to their BRCA1/2 germline mutation status, focusing particularly on the CBC recurrence risk in BRCA1/2 negative (BRCAx) patients. We conducted a retrospective study on 13,107 primary breast cancer patients. The patients were divided into high-risk and low-risk groups for hereditary breast cancer based on the Korean National Health Insurance Service’s eligibility criteria for BRCA1/2 germline mutation testing. The high-risk group was further categorized into the BRCA mutation group, the BRCAx group, and the not tested group. We evaluated the overall survival and cumulative risk of developing CBC in these patients. Among 4494 high-risk patients, 973 (21.7%) underwent genetic testing for BRCA1/2 germline mutation, revealing mutations in 158 patients (16.2%). We observed significant overall survival differences across all four groups, with the high-risk, not-tested group demonstrating notably worse overall survival (p < 0.001). However, when adjusted for other prognostic factors, there was no significant differences in hazard ratio of death between the four groups. The cumulative risk of CBC also varied among the groups. Patients with BRCA1/2 mutations showed a 7.3-fold increased risk of CBC compared to the low-risk group (95% CI 4.11–13.0, p < 0.001). Interestingly, BRCAx patients also demonstrated a significantly higher risk of CBC (HR 2.77, 95% CI 1.76–4.35, p < 0.001). The prognostic importance of the BRCAx for CBC recurrence persisted after adjusting for the age and subtype, but became insignificant when the family history of breast cancer was adjusted. Breast cancer patients who are at high risk of hereditary breast cancer but with wild-type BRCA 1/2 genes (BRCAx) have increased risk of developing contralateral breast cancer when compared to the low-risk patients. More careful surveillance and follow-up can be offered to these patients especially when they have family history of breast cancer.
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来源期刊
Breast Cancer Research
Breast Cancer Research 医学-肿瘤学
自引率
0.00%
发文量
76
期刊介绍: Breast Cancer Research is an international, peer-reviewed online journal, publishing original research, reviews, editorials and reports. Open access research articles of exceptional interest are published in all areas of biology and medicine relevant to breast cancer, including normal mammary gland biology, with special emphasis on the genetic, biochemical, and cellular basis of breast cancer. In addition to basic research, the journal publishes preclinical, translational and clinical studies with a biological basis, including Phase I and Phase II trials.
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