海南西部地区乳腺癌患者 BRCA1 / 2 基因突变状态分析

目的 不同的区域及种族的 BRCA1 / 2 基因突变频率差异较大, 着重分析海南西部地区乳腺癌患者 BRCA1 / 2 基因的突变状态及对患者预后的影响。 方法 选取 2015 年 10 月 ~ 2020 年 12 月在海南西部中心医院住院并确诊为原发性乳腺癌的 256 例患者为研究对象, 采用变性高效液相色谱法 ( denaturing highperformance liquid chromatography, DHPLC) 筛查乳腺癌患者是否存在 BRCA1 / 2 基因突变, 分析 BRCA1 / 2 基因突变状态及 BRCA1 / 2 基因突变患者的临床特征, 并随访分析患者 5 年生存情况, COX 回归分析影响患者预后的因素。 结果 256 例乳腺癌患者中共检出 53 例患者发生 BRCA1 / 2 基因突变, 其中 BRCA1 突变率12. 11 % (31 / 256), BRCA2 突变率 8. 59 % (22 / 256), 其中有害变异率为 7. 03 % (18 / 256)。 BRCA1 / 2 基因突变患者家族病史、 妇科疾病史、 乳腺疾病史、 雌激素受体 (estrogen receptor, ER)、 原癌基因 (CerbB2) 蛋白阳性比例以及临床病理分级、 临床分期与未突变患者比较差异有统计学意义 (P< 0. 05)。 患者总体生存率为 83. 59 % , BRCA1 / 2 基因突变者生存率低于未突变者 (P< 0. 05), COX 回归分析显示, BRCA1 /2 基因突变、 乳腺疾病史、 临床分期、 CerbB-2 阳性、 CEA、 CA199 均是影响乳腺癌患者生存的危险因素(P< 0. 05)。 结论 通过 DHPLC 可有效筛查海南西部地区乳腺癌患者 BRCA1 / 2 基因的有害变异, BRCA1 / 2基因突变与临床病理特征及预后密切相关。

Analysis of BRCA1 / 2 Gene Mutations in Breast Cancer Patients inWestern Hainan

Objective The frequency of BRCA1 / 2 gene mutations varies greatly in different regions and ethnic groups. This study aimed to analyze the BRCA1 / 2 gene mutations in breast cancerpatients in western Hainan and their impacts on the prognosis. Methods A total of 256 patients whowere diagnosed with primary breast cancer and hospitalized in Hainan Western Central Hospital fromOctober 2015 to December 2020 were regarded as the research objects. Denaturing high-performanceliquid chromatography ( DHPLC) was applied to screen the BRCA1 / 2 gene mutations in breastcancer patients. The BRCA1 / 2 gene mutation status and clinical characteristics of the 256 patientswere analyzed, the 5-year survival rate of the patients with BRCA1 / 2 gene mutations was analyzed,and the factors that affect the prognosis of the patients were analyzed by COX regression. Results Among the 256 breast cancer patients in this study, 53 patients had BRCA1 / 2 gene mutations, inwhich the BRCA1 mutation rate was 12. 11 % (31 / 256), the BRCA2 mutation rate was 8. 59 %(22 / 256), and the rate of harmful variants was 7. 03 % (18 / 256). There were significant differences in family medical history, gynecological disease history, breast disease history, positive ratios of estrogen receptor (ER) and CerbB-2 proteins, clinicopathological grade and clinical stagebetween patients with BRCA1 / 2 mutations and those without BRCA1 / 2 mutations (P < 0. 05). Theoverall survival rate of the 256 patients was 83. 59 % , and the survival rate of patients withBRCA1 / 2 gene mutations was lower than that of patients without mutations (P< 0. 05). COX regression analysis showed that BRCA1 / 2 mutations, breast disease history, clinical stage, CerbB-2 positive, CEA and CA199 were all risk factors affecting the survival of breast cancer patients ( P <0. 05). Conclusion DHPLC can effectively screen out the harmful variants of BRCA1 / 2 gene inbreast cancer patients, and the BRCA1 / 2 gene mutations are closely related to the clinicopathological features and prognosis of breast cancer patients.