Department of Surgery, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.
Hemato-Oncology, Department of Internal Medicine, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.
Oncology. 2021;99(8):499-506. doi: 10.1159/000515790. Epub 2021 Jun 7.
The BRCA1/2 gene is the most well-known and studied gene associated with hereditary breast cancer. BRCA1/2 genetic testing is widely performed in high-risk patients of hereditary breast cancer in Korea. This study aimed to investigate the clinicopathological characteristics of BRCA1/2 mutation-positive breast cancer patients.
The clinical data of 188 Korean breast cancer patients who underwent genetic testing of BRCA1/2 mutation between March 2015 and February 2020 at Pusan National University Yangsan Hospital were retrospectively reviewed. The characteristics of breast cancer according to the expression of BRCA1 and BRCA2 mutations were analyzed using the Health Insurance Review and Assessment Service guideline criteria and other clinicopathological factors.
The factor associated with BRCA1/2 gene expression was cancer stage, and mutation expression was significantly decreased in stage I compared to stage 0 (p = 0.033; odds ratio [OR], 0.169; 95% confidence interval [CI], 0.033-0.867), and there was a tendency to increase in stage II (p = 0.780; OR, 1.150; 95% CI, 0.432-3.064). BRCA1 was significantly associated with triple-negative breast cancer (TNBC) (p = 0.004; OR, 5.887; 95% CI, 1.778-19.498). Gene expression of BRCA2 was significantly reduced under 40 years of age (p = 0.040; OR, 0.198; 95% CI, 0.042-0.930). There was no difference in disease-free survival (p = 0.900) and overall survival (p = 0.733) between the BRCA1/2 mutation-positive and -negative groups.
In this study, the clinicopathological characteristics of breast cancer patients with BRCA1/2 gene mutations were identified. BRCA1 gene expression was highly correlated with TNBC. BRCA1/2 mutation did not have a poor prognosis regarding recurrence and death.
BRCA1/2 基因是与遗传性乳腺癌关联最密切、研究最多的基因。在韩国，遗传性乳腺癌的高危患者广泛进行 BRCA1/2 基因检测。本研究旨在探讨 BRCA1/2 突变阳性乳腺癌患者的临床病理特征。
回顾性分析 2015 年 3 月至 2020 年 2 月在釜山大学延世医院接受 BRCA1/2 基因突变基因检测的 188 例韩国乳腺癌患者的临床资料。根据 BRCA1 和 BRCA2 突变的表达，使用健康保险审查和评估服务指南标准和其他临床病理因素分析乳腺癌的特征。
与 BRCA1/2 基因表达相关的因素是癌症分期，与 0 期相比，I 期 BRCA1/2 基因突变表达显著降低（p=0.033；优势比[OR]，0.169；95%置信区间[CI]，0.033-0.867），且 II 期有增加的趋势（p=0.780；OR，1.150；95%CI，0.432-3.064）。BRCA1 与三阴性乳腺癌（TNBC）显著相关（p=0.004；OR，5.887；95%CI，1.778-19.498）。BRCA2 基因表达在 40 岁以下显著降低（p=0.040；OR，0.198；95%CI，0.042-0.930）。BRCA1/2 基因突变阳性和阴性组之间的无病生存率（p=0.900）和总生存率（p=0.733）无差异。
本研究确定了 BRCA1/2 基因突变乳腺癌患者的临床病理特征。BRCA1 基因表达与 TNBC 高度相关。BRCA1/2 突变与复发和死亡的不良预后无关。
