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目的乳腺癌易感基因1(breast cancer susceptibility gene 1,BRCA1)和BRCA2基因已经证实与家族性乳腺癌密切相关。本研究旨在分析中国汉族家族性乳腺癌患者及家系成员BRCA1和BRCA2突变特征及携带情况。方法收集2013-12-02-2015-06-08军事医学科学院附属医院确诊的中国汉族家族性乳腺癌患者55例及家系成员48名,共计103例样本。抽取外周静脉血提取DNA,应用聚合酶链反应(polymerase chain reaction,PCR)-DNA直接测序方法检测BRCA1和BRCA2基因全编码外显子序列。结果 55例家族性乳腺癌患者中发现5个BRCA基因致病性突变位点,1个突变位点乳腺癌信息库中见报道(BRCA1:4730insG),4个为新发现突变位点(BRCA1:1937insC,4538insAG;BRCA2:1382delA,2820delA)。家族性乳腺癌患者BRCA1/2突变率为9.09%(BRCA1,5.45%;BRCA2,3.64%),其中三阴性乳腺癌患者突变率为22.22%(χ2=1.99,P=0.20),早发性乳腺癌患者(≤35岁)突变率为20.00%,χ2=0.79,P=0.39。48例家系成员检测到3个新发现突变位点(BRCA1:1370insA,3459insA;BRCA2:6502insT),总突变率为6.25%。结论中国汉族家族性乳腺癌患者BRCA基因突变率显著低于国外,应重点关注有家族史的三阴性乳腺癌患者和早发性乳腺癌患者;家系成员中发现BRCA基因致病性突变,家系成员突变率和发病风险有待进一步研究,应引起重视。
Objective Breast cancer susceptibility gene 1 (BRCA1) and BRCA2 genes have been shown to be closely associated with familial breast cancer. The purpose of this study was to analyze the characteristics and carriage of BRCA1 and BRCA2 mutations in Chinese Han patients with familial breast cancer and their family members. Methods Fifty-five Chinese Han patients with familial breast cancer and 48 family members were enrolled in the Affiliated Hospital of Academy of Military Medical Sciences from December 12, 2013 to June 15, 2013. A total of 103 samples were collected. Peripheral venous blood was drawn for DNA extraction. The full-coding exon sequences of BRCA1 and BRCA2 genes were detected by polymerase chain reaction (PCR) -DNA direct sequencing. RESULTS: Five BRCA gene mutations were found in 55 cases of familial breast cancer patients. One mutation locus breast cancer database (BRCA1: 4730insG) and four newly discovered mutation sites (BRCA1: 1937insC, 4538insAG; BRCA2: 1382delA, 2820delA). The mutation rate of BRCA1 / 2 in familial breast cancer was 9.09% (BRCA1, 5.45%; BRCA2, 3.64%). The mutation rate of triple negative breast cancer was 22.22% (χ2 = 1.99, P = 0.20) The mutation rate of cancer patients (≤35 years old) was 20.00%, χ2 = 0.79, P = 0.39. There were 3 newly discovered mutation sites (BRCA1: 1370insA, 3459insA; BRCA2: 6502insT) 6.25%. Conclusions The mutation rate of BRCA gene in Chinese Han patients with familial breast cancer is significantly lower than that in other countries. Three families of patients with triple negative breast cancer and those with early-stage breast cancer should be the focus of attention. Family members have found BRCA gene pathogenic mutations, Mutation rate and risk of disease to be further studied, should be taken seriously.