三阴性乳腺癌患者BRCA1和BRCA2基因突变的临床特征及预后因素
| 作者: |
1黄志坚,
1林庆中,
1黄秋艳,
2肖晨,
1陈夏,
3许春伟,
4方美玉
1 福建医科大学教学医院福建省肿瘤医院乳腺外科，福州 350014 2 福州市第二医院消化科，福州 350000 3 福建医科大学教学医院福建省肿瘤医院病理科，福州 350014 4 浙江省肿瘤医院综合肿瘤内科，杭州 310022 |
| 通讯: |
黄志坚
Email: ehuang27@163.com |
| DOI: | 10.3978/j.issn.2095-6959.2017.02.003 |
| 基金: | 国家临床重点专科建设项目, 2013 福建中医药大学校管科研课题, XB2016060 |
摘要
目的：探究三阴性乳腺癌患者BRCA1和BRCA2基因突变检测的临床意义及预后因素分析。方法：研究对象选取为2003年1月至2015年12月之间的三阴性乳腺癌156例，所有患者均通过PCR法和DNA序列测定检验BRCA1和BRCA2基因突变情况，分析乳腺癌患者BRCA1和BRCA2基因突变特点。应用Log-Rank检验对BRCA1和/或BRCA2基因突变的三阴性乳腺癌患者的各项指标如年龄、ECOG状态、临床分期、淋巴结阳性数、月经状态和给药方式进行单因素分析。应用Cox风险比例回归模型分析患者年龄、ECOG状态、临床分期、淋巴结阳性数、肿瘤大小、月经状态和给药方式等多因素分析。结果：三阴乳腺癌患者发生基因突变21例，总体发生率13.46%，BRCA1突变15例，BRCA2突变6例。Log-Rank检验结果显示，发病年龄越大，ECOG评分越高，临床分期越晚，淋巴结阳性数越多，预后越差(P<0.05)，而发病时月经状态和给药方式与预后无关。COX风险比例回归模型显示，肿瘤大小(相对危险度，3.163；95%CI：1.455~9.287；P<0.05)和淋巴结转移数(相对危险度，1.859；95%CI：1.254~6.875；P<0.05)是BRCA基因突变三阴性乳腺癌独立的预后因素。结论：BRCA1和BRCA2基因突变可能与乳腺癌尤其是三阴乳腺癌可能有着密切的相关性，发病年龄、ECOG评分，临床分期和淋巴结阳性数及肿瘤大小与BRCA基因突变的三阴乳腺癌预后有关。
关键词：
三阴乳腺癌
BRCA1
BRCA2
基因突变
预后因素
Clinical features and prognostic factors of BRCA1 and BRCA2 gene mutations in patients with triple-negative breast cancer
CorrespondingAuthor: HUANG Zhijian Email: ehuang27@163.com
DOI: 10.3978/j.issn.2095-6959.2017.02.003
Abstract
Objective: To investigate the clinical features and prognostic factors of BRCA1 and BRCA2 gene in patients with triple-negative breast cancer. Methods: A total of 156 triple-negative breast cancer patients were selected from Jan. 2003 to Dec. 2015. All patients were tested for BRCA1 and BRCA2 mutations by PCR and DNA sequencing. Characteristics of BRCA1 and BRCA2 gene mutations in patients with breast cancer were analyzed retrospectively. Log-Rank test was applied for single factor analysis of BRCA1 and/or BRCA2 gene mutations breast cancer patients, such as age, ECOG state, clinical stage, lymph node number, menstrual status and drug-delivery way. Cox risk proportional regression model was used for multiple-factor analysis such as the patient’s age, ECOG state, clinical stage, positive number of lymph nodes, tumor size, menstrual status and drug delivery, etc. Results: Gene mutation occurred in 21 triple-negative breast cancer patients, the overall incidence was 13.46%, 15 cases of BRCA1 mutation, 6 cases of BRCA2 mutation. Log-Rank test results showed that the older the age of onset, the more late clinical stage, the higher the ECOG score, the more positive number of lymph nodes, the worse the prognosis (P<0.05); and the incidence of menstrual status and drug delivery methods do not correlated with prognosis. Cox proportional hazards regression model showed that tumor size (relative risk, 3.163; 95% CI: 1.455—9.287; P<0.05) and the number of lymph node metastasis (relative risk, 1.859; 95% CI: 1.254—6.875; P<0.05) is the independent prognostic factors of prognosis of BRCA gene mutations in triple-negative breast cancer. Conclusion: The mutation of BRCA1 and BRCA2 genes may be closely related to breast cancer, especially triple-negative breast cancer. The onset age, ECOG score, clinical stage, positive number of lymph nodes, tumor size were related to the prognosis of BRCA gene mutations in triple-negative breast cancer.