Division of Breast Surgery, Department of Surgery, Kosin University Gospel Hospital, Busan, Korea.
Kosin University College of Medicine, Busan, Korea.
Medicine (Baltimore). 2023 Sep 22;102(38):e35267. doi: 10.1097/MD.0000000000035267.
Breast cancer is one of the most prevalent malignant tumors affecting women globally. It is a heterogeneous disease characterized by mutations in several genes. Several gene panels have been applied to assess the risk of breast cancer and determine the appropriate treatment. As a powerful tool, Next-generation sequencing (NGS) has been widely utilized in cancer research due to its advantages, including high speed, high throughput, and high accuracy. In this study, we aim to analyze the correlation between somatic mutations in breast cancer, analyzed using NGS, and the prognosis of patients. Between May 2018 and May 2019, a total of 313 patients with breast cancer underwent surgical treatment, which included total mastectomy and breast-conserving surgery. Among these patients, 265 were diagnosed with invasive ductal carcinoma. In this study, we analyzed the NGS results, clinicopathological characteristics, and their correlation with prognosis. Using a gene panel, we examined 143 somatic mutations in solid cancers. Notably, the study population included patients who had received neoadjuvant chemotherapy. The mean age of the patients was 53.1 (±10.28) years, and the median follow-up time was 48 months (range, 8-54). Among the 265 patients, 68 had received prior systemic therapy. Of these, 203 underwent breast-conserving surgery, and 62 underwent a mastectomy. Various somatic mutations were observed in NGS, with the most frequent mutation being PIK3CA mutations, which accounted for 44% of all mutations. TP53 mutations were the second most frequent, and ERBB2 mutations were the third most frequent. TP53 mutations were associated with poor disease-free survival (P = .027), while PIK3CA mutations were associated with better disease-free survival (P = .035) than PIK3CA wild-type. In our study, we identified various somatic mutations in breast cancer. Particularly, we found that TP53 and PIK3CA mutations are potentially associated with the prognosis of breast cancer. These findings suggest that the presence of specific mutations may have implications for predicting the prognosis of breast cancer. Further research and validation are needed to gain a deeper understanding of the role of these mutations and their mechanisms in prognosis prediction.
乳腺癌是全球女性中最常见的恶性肿瘤之一。它是一种具有多种基因突变的异质性疾病。已经有几个基因面板被应用于评估乳腺癌的风险，并确定适当的治疗方案。作为一种强大的工具，下一代测序（NGS）由于其高速、高通量和高精度的优势，已广泛应用于癌症研究。在这项研究中，我们旨在分析使用 NGS 分析的乳腺癌体细胞突变与患者预后之间的相关性。
2018 年 5 月至 2019 年 5 月，共有 313 名乳腺癌患者接受了手术治疗，包括全乳房切除术和保乳手术。其中 265 例诊断为浸润性导管癌。在这项研究中，我们分析了 NGS 结果、临床病理特征及其与预后的相关性。我们使用基因面板检测了 143 种实体瘤的体细胞突变。值得注意的是，研究人群包括接受新辅助化疗的患者。患者的平均年龄为 53.1（±10.28）岁，中位随访时间为 48 个月（8-54 个月）。在 265 名患者中，68 名患者接受了系统治疗。其中，203 例行保乳手术，62 例行乳房切除术。在 NGS 中观察到各种体细胞突变，最常见的突变是 PIK3CA 突变，占所有突变的 44%。TP53 突变是第二常见的突变，而 ERBB2 突变是第三常见的突变。TP53 突变与无病生存期不良相关（P=0.027），而 PIK3CA 突变与无病生存期较好相关（P=0.035）。在我们的研究中，我们鉴定了乳腺癌中的各种体细胞突变。特别是，我们发现 TP53 和 PIK3CA 突变可能与乳腺癌的预后相关。这些发现表明，特定突变的存在可能对预测乳腺癌的预后具有重要意义。需要进一步的研究和验证，以深入了解这些突变及其在预后预测中的机制的作用。
