中国乳腺癌患者BRCA1基因的频发突变5589del8

5589del8： the recurrent mutation of BRCA1 gene in Chinese breast cancer patients

目的研究在中国大陆乳腺癌人群中是否存在BRCAI／2基因突变的“热点”。方法研究对象为来自全国4个乳腺癌医疗中心的177例家族性和早发性乳腺癌患者和426例散发性乳腺癌患者，根据前期研究中已发现的BRCAI／2基因突变位点，应用变性高效液相色谱分析和DNA测序技术对这些患者进行已知位点的突变检测。结果在前期研究的70例家族性和早发性乳腺癌患者和本研究的177例患者（共247例）中，共发现3例BRCAl5589del8突变的携带者，在426例散发性乳腺癌患者中也发现了2例BRCAl5589del8突变的携带者。单倍型分析的结果显示这5例患者具有相近甚至相同的单倍型。结论BRCAl5589del8突变是中国人群中BRCAl基因的频发突变，它是否是中国人群中的“始祖突变”仍需进一步研究证实。

Objective To study the “hot spot” of BRCA1/2 gene mutations in Chinese mainland breast cancer population. Methods The known BRCA1/2 gene mutations in author＇s previous studies were reanalyzed by denaturing high performance liquid chromatography and DNA sequencing method in 177 patients with early onset breast cancer or affected relatives and 426 sporadic breast cancer patients from four breast cancer centers in China. Results Three cases were found with BRCA1 5589de18 mutation out of 247 hereditary-predispesing breast cancer patients （70 patients in previous study and 177 patients in current study） and 2 cases with BRCA1 5589de18 mutation out of 426 sporadic breast cancer patients. They had similar even same haplotype.Conclusion BRCA1 5589de18 mutation is hkely to be the “founder mutation” in Chinese population, but it should be confirmed by further studies.